BACKGROUND The global prevalence of type 2 diabetes mellitus(T2DM)is increasing.T2DM is associated with alterations of the gut microbiota,which can be affected by age,illness,and genetics.Previous studies revealed tha...BACKGROUND The global prevalence of type 2 diabetes mellitus(T2DM)is increasing.T2DM is associated with alterations of the gut microbiota,which can be affected by age,illness,and genetics.Previous studies revealed that there are discriminating microbiota compositions between the Dai and the Han populations.However,the specific gut microbiota differences between the two populations have not been elucidated.AIM To compare the gut microbiota differences in subjects with and without T2DM in the Dai and Han populations.METHODS A total of 35 subjects of the Han population(including 15 healthy children,8 adult healthy controls,and 12 adult T2DM patients)and 32 subjects of the Dai population(including 10 healthy children,10 adult healthy controls,and 12 adult T2DM patients)were enrolled in this study.Fasting venous blood samples were collected from all the subjects for biochemical analysis.Fecal samples were collected from all the subjects for DNA extraction and 16S rRNA sequencing,which was followed by analyses of the gut microbiota composition.RESULTS No significant difference in alpha diversity was observed between healthy children and adults.The diversity of gut microbiota was decreased in T2DM patients compared to the healthy adults in both the Dai and Han populations. There was a significant difference in gut microbiota between healthy children and healthy adults in the Hanpopulation with an increased abundance of Bacteroidetes and decreased Firmicutes in children. However, thisdifference was less in the Dai population. Significant increases in Bacteroidetes in the Han population and Proteobacteriain the Dai population and decreases in Firmicutes in both the Han and Dai population were observed inT2DM patients compared to healthy adults. Linear discriminant analysis Effect Size analysis also showed that thegut microbiota was different between the Han and Dai populations in heathy children, adults, and T2DM patients.Four bacteria were consistently increased and two consistently decreased in the Han population compared to theDai population.CONCLUSION Differences in gut microbiota were found between the Han and Dai populations. A significant increase inBacteroidetes was related to the occurrence of T2DM in the Han population, while a significant increase in Proteobacteriawas related to the occurrence of T2DM in the Dai population.展开更多
This meta-analysis compared the therapeutic effect of cable pin system(CPS) with K-wire tension band(KTB) in the treatment of patella fractures among Chinese Han population. The databases of PubM ed, Cochrane libr...This meta-analysis compared the therapeutic effect of cable pin system(CPS) with K-wire tension band(KTB) in the treatment of patella fractures among Chinese Han population. The databases of PubM ed, Cochrane library, China National Knowledge Infrastructure(CNKI), Chinese Wan Fang and Chinese VIP were searched for studies on CPS versus KTB in the treatment of patella fractures among Chinese Han population. Literatures were screened according to the inclusion and exclusion criteria. The quality of the studies was assessed, and meta-analysis was performed using the Cochrane Collaboration's REVMAN 5.3 software. A total of 932 patients from 15 studies were included in this meta-analysis(426 fractures treated with CPS and 506 fractures treated with KTB). There were significant differences in duration of hospital stay [mean difference(MD)=–1.07; 95% confidence interval(CI): –1.71 to –0.43], fracture healing time(MD=–1.23; 95% CI: –1.68 to –0.77), flexion degree of knee joint at 6 th month after operation(MD=14.82; 95% CI: 10.93 to 18.71), incidence of postoperative complication [risk ratio(RR)=0.16; 95% CI: 0.09 to 0.27] and excellent-good rate of B?stman score(RR=1.09; 95% CI: 1.03 to 1.16) between the CPS group and KTB group, while no significant difference was found in operative time between the two groups(MD=–4.52; 95% CI: –11.70 to 2.67). For the treatment of patella fractures among Chinese Han population, limited evidence suggests that the CPS is more suitable than the KTB when considering the hospital stay, fracture healing time, flexion degree of knee at 6 th month after operation, incidence of postoperative complication and excellent-good rate of B?stman joint score. Due to the limitation of high quality evidence and sample size, more large-scale randomized controlled trials are needed to validate the findings in the future.展开更多
Thromboxane A synthase 1 (TBXAS1) catalyses the synthesis of thromboxane A2 (TXA2), which plays an important role in the pathogenesis of ischemic stroke. Thus, the TBXAS1 gene was investigated as a candidate gene ...Thromboxane A synthase 1 (TBXAS1) catalyses the synthesis of thromboxane A2 (TXA2), which plays an important role in the pathogenesis of ischemic stroke. Thus, the TBXAS1 gene was investigated as a candidate gene involved in the formation of atherosclerosis. This case-control study collected peripheral blood specimens and clinical data of 370 ischemic stroke patients and 340 healthy controls in the Northern Chinese Han population from October 2010 to May 2011. Two TBXAS1 single-nucleotide polymorphisms, rs2267682 and rs10487667, were analyzed using a SNaPshot Multiplex sequencing assay to explore the relationships between the single-nucleotide polymorphisms in TBXAS1 and ischemic stroke. The TT genotype frequency and T allele frequency of rs2267682 in the patients with ischemic stroke were significantly higher than those in the controls (P 〈 0.01 and P = 0.02). Furthermore, compared with the GG + GT genotype, the TT rs2267682 genotype was associated with increased risk of ischemic stroke (odds ratio (OR) = 1.80, 95% confidence interval (CI): 1.16–2.79, P 〈 0.01). Multivariate logistic analysis with adjustments for confounding factors revealed that rs2267682 was still associated with ischemic stroke (OR = 1.94,95% CI : 1.13–3.33, P = 0.02). The frequency of the T-G haplotype in the patients was significantly higher than that in the controls according haplotype analysis (OR = 1.49, 95% CI: 1.10–2.00, P 〈 0.01). These data reveal that the rs2267682 TBXAS1 polymorphism is associated with ischemic stroke. The TT genotype of TBXAS1 and T allele of rs2267682 increase susceptibility to ischemic stroke in this Northern Chinese Han population. The protocol has been registered with the Chinese Clinical Trial Registry (registration number: ChiCTR-COC-17013559).展开更多
AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy(DR) in Chinese population.·METHODS: A case-control study was performed to investigate the genetic association between DR ...AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy(DR) in Chinese population.·METHODS: A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus(T2DM). A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant(rs10946398) of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression(MLR) analysis.· RESULTS: There were significant differences in C allele frequencies of rs10946398(CDKAL1) between control and DR groups(45.06% versus 55.00%, P 〈0.05).The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION: Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.展开更多
Associations between "lipid-related" candidate genes,blood lipid concentrations and coronary artery disease(CHD) risk are not clear.We aimed to investigate the effect of three newly identified lipids loci from gen...Associations between "lipid-related" candidate genes,blood lipid concentrations and coronary artery disease(CHD) risk are not clear.We aimed to investigate the effect of three newly identified lipids loci from genome-wide association studies on CHD and blood lipid levels in Chinese Han population.The genotypes of SNPs at three newly identified lipid loci and blood lipids concentrations were examined in 1360 CHD patients and 1360 age-and sex-frequency matched controls from an unrelated Chinese Han population.Allele T of rs16996148 occurred less frequently in CHD patients with the odds ratio(OR) being 0.64(95% CI 0.50 to 0.81),after adjusting for conventional risk factors and was associated with a 33% decreased CHD risk(P0.01) comparing with the major allele G.Individuals with GT genotype had the lowest CHD risk.No associations were found between the polymorphisms of other two loci with CHD risk and all three SNPs had no effect on lipid profile in this population.SNP rs16996148 on chromosome 19p13 is significantly associated with lower risk for CHD in Chinese Han population.However,it remains unresolved why these lipid-related loci had significantly less effects than the correspondingly expected effects on blood lipids levels in this population.展开更多
A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau (MAPT) gene was significantly associated with sp...A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau (MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis. Here, we tested this association in 107 sporadic amyotrophic lateral sclerosis patients and 100 healthy controls from the Chinese Han population. We screened the mutation-susceptible regions of MAPT- the 3' and 5' untranslated regions as well as introns 9, 10, 11, and 12 - by direct sequencing, and identified 33 genetic variations. Two of these, 105788 A 〉 G in intron 9 and 123972 T 〉 A in intron 11, were not present in the control group. The age of onset in patients with the 105788 A 〉 G and/or the 123972 T 〉 A variant was younger than that in patients without either genetic variation. Moreover, the pa- tients with a genetic variation were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype. This led to a shorter survival period in patients with a MAPT genetic variant. Our study suggests that the MAPT gene is a potential risk gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.展开更多
BACKGROUND: It is of significance for single nucleotide polymorphisms (SNPs), a difference of rank, which exists widely in biology, genetics and other fields. OBJECTIVE: To detect polymorphism sites in exon-4 of p...BACKGROUND: It is of significance for single nucleotide polymorphisms (SNPs), a difference of rank, which exists widely in biology, genetics and other fields. OBJECTIVE: To detect polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province. DESIGN: Simple random sampling. SETTING: Department of Surgery of the 118 Hospital of Chinese PLA.PARTICIPANTS: A total of 80 healthy people in Han nationality were selected from hospitals in Zhejiang province from August 2005 to January 2006. There were 43 males and 37 females aged from 3 to 78 years with the mean age of 39.5 years, and all subjects were consent. DNA which was used in genetic analysis was selected from peripheral venous blood of all subjects and maintained at -20℃.METHODS: Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene were detected with directly DNA sequencing technique. MAIN OUTCOME MEASURES : Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province. RESULTS: A total of 80 samples were involved in the final analysis. SNPs sites were found at the 119^th base of exon-4 of p53 gene (the 72^nd codon of p53 gene), the 670^th base of upper start codon in promotor of Fas gene (Fas-670), and the 995^th base of intron-7 of Fas gene, especially SNPs in the 995^th base of intron-7 pf Fas gene, i.e. C→A transversion, was a new site.CONCLUSION : One unknown SNPs site is discovered in intron-7 of Fas gene of people in Han nationality in Zhejiang province. This study also proves that the 72^nd codon exists in p53 gene and the -670 polymorphism site exists in promotor of Fas gene.展开更多
Objective To investigate the levels of cardiovascular disease risk factors and their relations to clinical phenotype associated with coronary artery disease(CAD).Methods The subjects were recruited from five independe...Objective To investigate the levels of cardiovascular disease risk factors and their relations to clinical phenotype associated with coronary artery disease(CAD).Methods The subjects were recruited from five independent cardiovascular centers.Coronary angiography was employed to define the CAD with stenosis in each major vessel ≥70% and control with stenosis <10% in every lesion.The classic risk factors including family history,body mass index,smoking habits,hypertension,diabetes mellitus,and serum lipid levels were surveyed according to established criteria.Associations between risk levels and clinical phenotypes were assessed by case control and correlation analysis.Results A total of 762 individuals were collected,including 481 men and 281 women,aged from 17 to 81(mean 60±10) years.The patients with CAD accounted for 55.5% of all participants,and controls 44.5%,respectively.Compared with the pattern in published data,our study showed that mean serum high density lipoprotein cholesterol(HDL-C) level was significantly lower(P<0.001) and triglycerides was significantly higher(P<0.001),while total cholesterol(TC) and low density lipoprotein cholesterol levels were comparative(both P>0.05).The prevalence of low HDL-C(<40 g/L) and hypertriglyceridemia(>150 g/L) were 27.2% and 41.4%,respectively.Mean serum levels of HDL-C and apolipoprotein A1 were significantly higher in female subjects than in male(P<0.001).Lower HDL-C functioned as an independent risk factor for CAD only in men(RR=2.8,95%CI:1.5-4.2,P<0.001),yet increased non-HDL cholesterol combined with diabetes mellitus and obesity seemed to play a key role in the development ofCAD in women.Similarity in risk association with CAD was found for hypertension and TC/HDL ratio in male and female subjects,while family history had no relationship with the presence of CAD.Conclusion It is remarkable that emphasis of intervention in future should be given on the prevalent low serum HDL-C and its strong risk correlation with the presence of CAD in male subjects of Chinese Han population.展开更多
Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup...Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup of the Yao minority in China.The present study was undertaken association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 649 subjects of Bai Ku Yao and 646 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the PCSK9 E670G polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing. Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C) and apolipoprotein(Apo) AI were lower in Bai Ku Yao than in Han(P【0.01 for all).The frequency of A and G alleles was 98.00%and 2.00%in Bai Ku Yao,and 95.20%and 4.80%in Han(P【0.01);respectively. The frequency of AA,AG and GG genotypes was 95.99%,4.01%and 0%in Bai Ku Yao,and 91.02%, 8.36%and 0.62%in Han(P【0.01);respectively.There were also significant differences in the genotypic and allelic frequencies between n and the ratio of ApoAI to ApoB in Han Chinese but not in Bai Ku Yao were different between the AA and AG/GG genotypes(P【0.05 for all).The G allele carriers had higher serum HDL-C and higher ApoAI to ApoB ratio than the G allele noncarriers.When serum lipid parameters in Han were analyzed according to sex,the G allele carriers had higher serum HDL and ApoAI levels in males (P【0.05),and lower ApoB level and higher ApoAI to ApoB ratio in females(P【0.05 for all).Multiple linear regression analysis showed that serum HDL-C levels were correlated with genotypes in both ethnic groups(P【0.05 each).Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption,cigarette smoking,and blood pressure in both ethnic groups(P【0.05-0.001).Conclusions These results suggest that the PCSK9 E670G polymorphism is mainly associated with some serum lipid parameters in the Han population,both gender show different relations to different serum lipid parameters.The G allele carriers might have higher serum lipid profiles than the G allele noncarriers. ormal LDL-C(≤3.20 mmol/L) and high LDL-C subgroups (】 3.20 mmol/L,P【0.01;respectively) in Bai Ku Yao, and between normal ApoB(≤1.14 g/L) and high ApoB subgroups(】 1.14 g/L,P 【 0.01;respectively) in Han.展开更多
AIM:To explore the association of single nucleotide polymorphisms(SNPs)in the IL33/IL1RL1 gene region with the susceptibility to Behcet’s disease(BD)in a Chinese Han population.METHODS:A total of eight SNPs in the ca...AIM:To explore the association of single nucleotide polymorphisms(SNPs)in the IL33/IL1RL1 gene region with the susceptibility to Behcet’s disease(BD)in a Chinese Han population.METHODS:A total of eight SNPs in the candidate gene region(rs11792633,rs7025417,rs10975519 and rs1048274 in IL33;rs2310220,rs12712142,rs13424006 and rs3821204 in IL1RL1)were genotyped in783 BD patients and 701 healthy controls by the Sequenom Mass Array i PLEX platform.RESULTS:A statistically significant association was observed between IL1RL1 rs12712142 and BD patients.The frequency of IL1RL1 rs12712142 variant allele A was significantly lower in BD patients than that in controls(OR=0.8,95%CI:0.69-0.94,Pc=0.039);the genotype distribution(Pc=0.043)and additive and dominant genetic model analyses(OR=0.8,95%CI:0.69-0.94,Pc=0.040 and OR=0.72,95%CI:0.58-0.88,Pc=0.011)also indicated a strong association between rs12712142 and BD patients.CONCLUSION:This is the first study to reveal the association between IL1RL1 rs12712142 variant allele A and the decreased risk of BD in the Chinese Han population,indicating a protective role of IL1RL1 in the pathogenesis of BD.展开更多
Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in ...Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677Tpolymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol(LDL-C), apolipoprotein(Apo) AI and ApoB were lower in Bai Ku Yao than in Han(P【0.05-0.001).The frequency of C and T alleles was 77.4%and 22.6%in Bai Ku Yao,and 60.9%and 39.1%in Han(P【0.001);respectively.The frequency of CC,CT and TT genotypes was 58.7%,37.3%and 4.0%in Bai Ku Yao,and 32.6%,56.4%and 11.0%in Han(P【 0.001);respectively.The levels of TC and LDL-C in both ethnic groups were significant differences among the three genotypes(P【0.05-0.01).The T allele carriers had higher serum TC and LDL-C levels than the T allele noncarriers. The levels of ApoB in Han were significant differences among the three genotypes(P【0.05).The T allele carriers had higher serum ApoB levels as compared with the T allele noncarriers. The levels of TC,TG and LDL-C in Bai Ku Yao were correlated with genotypes(P【0.05-0.001),whereas the levels of LDL-C in Han were associated with genotypes(P【 0.001).Serum lipid parameters were also correlated with sex, age,body massindex,alcohol consumption,cigarette smoking, and blood pressure in the both ethnic groups.Conclusions The differences in serum TC,TG,LDL-C and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of the MTHFR C677Tor differentMTHFR gene-enviromental interactions.展开更多
Objectives Phenotypic switching of smooth muscle cells(SMCs) plays a critical role in the pathogenesis of atherosclerotic lesions such as coronary artery disease (CAD).Accumulating evidence demonstrates(hat a cellular...Objectives Phenotypic switching of smooth muscle cells(SMCs) plays a critical role in the pathogenesis of atherosclerotic lesions such as coronary artery disease (CAD).Accumulating evidence demonstrates(hat a cellular repressor of E1A-stimulated genes(CREG) plays a role in the maintenance of the mature phenotype of vascular SMCs. The purpose of the present study was to assess the possible association between CREG and CAD in the Han population of North China.Methods The promoter region of CREG by direct sequencing was conducted in 48 subjects.Then SNP rs2995073 and another 4 tagSNPs(rs4657669,rs3767443, rsl6859185,rs3753921) were selected for the association study.All five selected SNPs were determined in 1161 patients with angiographically proven CAD and 960 controls with normal coronary angiograms to investigate the possible involvement of CREG in CAD.Results Genotype frequencies of the five examined polymorphisms were similarly distributed between CAD group and controls(P】0.05).Further haplotype analysis also found no significant differences in the distributions between CAD group and controls(P】0.05). Conclusions This study did not show an association between common variants of CREG and CAD in the northern Chinese Han population.展开更多
The angiotensin-converting enzyme gene is a candidate gene of stroke. The present study involved 62 healthy volunteers and 148 patients with middle cerebral artery stenosis as confirmed by brain color ultrasound from ...The angiotensin-converting enzyme gene is a candidate gene of stroke. The present study involved 62 healthy volunteers and 148 patients with middle cerebral artery stenosis as confirmed by brain color ultrasound from a Han population in North China, and determined the peripheral blood angiotensin-converting enzyme genotype using PCR-restriction fragment length polymorphism analysis. The results showed that the frequencies of the DD genotype and D allele were increased in patients with middle cerebral artery stenosis, but the difference was not statistically significant compared with healthy controls. The findings of this study on the relationship between stroke genes and middle cerebral artery stenosis indicate no significant correlation between the frequencies of the DO genotype and D allele of angiotensin-converting enzyme and middle cerebral artery stenosis in this Han population from North China. In the future, studies will be carried out to investigate correlations between multiple stroke candidate gene synergy and middle cerebral artery stenosis to provide a foundation for the development of gene therapy.展开更多
Ischemic stroke is a complicated disease, and its pathogenesis has been attributed to the occurrence of genetic polymorphisms.Evidence has suggested that the microRNA let-7a is involved in the pathogenesis of ischemic...Ischemic stroke is a complicated disease, and its pathogenesis has been attributed to the occurrence of genetic polymorphisms.Evidence has suggested that the microRNA let-7a is involved in the pathogenesis of ischemic stroke.Pri-miRNA is the primary transcript, which undergoes several processing steps to generate pre-miRNA and, later, mature miRNAs.In this case-control study, we analyzed the distribution of prilet-7a-2 variants in patients at a high risk for ischemic stroke and the interactions of pri-let-7a-2 variants and environmental factors.Blood samples and clinical information were collected from 1086 patients with ischemic stroke and 836 healthy controls between December 2013 and December 2015 at the First Affiliated Hospital of China Medical University.We found that the rs1143770 CC genotype and the C allele were associated with a decreased risk of ischemic stroke, whereas the rs629367 CC genotype was associated with an increased risk for ischemic stroke.Moreover, these two single-nucleotide polymorphisms were in linkage disequilibrium in this study sample.We analyzed gene-environment interactions and found that rs1143770 exerted a combined effect on the pathogenesis of ischemic stroke, together with alcohol use, smoking, and a history of hypertension.Therefore, the detection of pri-let-7a-2 polymorphisms may increase the awareness of ischemic stroke risk.This study was approved by the Institutional Ethics Committee of the First Affiliated Hospital of China Medical University, China(approval No.2012-38-1) on February 20, 2012, and was registered with the Chinese Clinical Trial Registry(registration number: ChiCTR-COC-17013559) on December 27, 2017.展开更多
KCNK17 is a member of the acid-sensitive subfamily of tandem pore K+ channels,which are open at all membrane potentials and contribute to cellular resting membrane potential.Recent genome-wide study(GWA)has shown that...KCNK17 is a member of the acid-sensitive subfamily of tandem pore K+ channels,which are open at all membrane potentials and contribute to cellular resting membrane potential.Recent genome-wide study(GWA)has shown that variants within KCNK17 confer genetic susceptibility for increasing ischemic stroke.In an effort to discover additional polymorphism(s),we scrutinized the genetic polymorphisms in the KCNK17.By direct DNA sequencing in 32 individuals,we identified nine sequence variants within the 16kb of whol...展开更多
Objectives To study the association of single nucleotide polymorphism (SNP) rs2076185 in chromosome 6p24.1 with the premature coronary artery diseases (PCAD) in Chinese Hun population. Methods A total of 1382 pati...Objectives To study the association of single nucleotide polymorphism (SNP) rs2076185 in chromosome 6p24.1 with the premature coronary artery diseases (PCAD) in Chinese Hun population. Methods A total of 1382 patients were divided into the PCAD group and the control group based on their coronary arteriography (CAG) results. Their SNP rs2076185 were analyzed by the mass-spectrometry. Their allele and genotype frequency in Hardy-Weinberg equilibrium were calculated for assessment. Logistic regression was employed to remove confounding factors and correlate SNP rs2076185 with PCAD. Results The allele and genotype frequencies of the control group were in Hardy-Weinberg equilibrium (P 〉 0.05). The frequencies of allele G of rs2076185 were 54.2% in the PCAD group and 49.5% in the control group. The difference was significant (P = 0.042). The genotype distribution ofrs2076185 of the two groups was also significantly different. The univariate analysis showed that the rs2076185 polymorphisms were associated with the PCAD only in the additive model (OR: 0.828, 95% CI: 0.711-0.964, P = 0.014), and in the dominant model (OR: 0.753, 95% CI: 0.591-0.958, P = 0.021). After removing the confound- ing variables, the rs2076185 polymorphisms was associated with PCAD in the additive model (OR: 0.775, 95% CI: 0.648-0.928, P = 0.005), in the dominant model (OR: 0.698, 95% CI: 0.527-0.925, P = 0.012), and in the recessive model (OR: 0.804, 95% CI: 0.538-0.983, P - 0.038). Conclusion Allele G of rs2076185 reduces the PCAD risks in Chinese Hun population, therefore it could be a coronary artery diseases protective factor in Chinese Hun population.展开更多
To understand the polymorphism of the heat shock protein 70 (HSPTO) genes in Chinese Han population and to explore the co-relations between HSP70 polymorphism and disease, three polymorphic loci of HSP70 genes in 12...To understand the polymorphism of the heat shock protein 70 (HSPTO) genes in Chinese Han population and to explore the co-relations between HSP70 polymorphism and disease, three polymorphic loci of HSP70 genes in 127 healthy Chinese Han population in Fujian province were analyzed by PCR and restriction enzyme analysis, and the genotypes and allele frequencies of HSPTO in different populations from various area were compared. It was found that the proportions of HSPTO-1 genotypes GG, GC and CC among Chinese Han population in Fujian province were 55.1%, 40.2% and 4.7% respectively, while those of HSP70-2 genotypes AA, AG and GG were 44.1%, 48.8 % and 6.9% respectively, and those of HSP70-hom genotypes TF, TC and CC were 59.8%, 37.0% and 3.2% respectively. The allele frequencies of G and C in HSP70-1 were 75.2% and 24.8% ; those of A and G in HSP70-2 were 68.5% and 31.5% and those ofT and C in HSP70-hom were 78.3% and 21.7% respectively. The distribution of the HSPTO-1 polymorphisms in Chinese Han population was almost the same as those in Japanese and Mexican populations, but it was rather different from those of American and Spanish populations with a significant differences. Meanwhile, the frequency of GG homozygote in HSPTO- 1 was signifi- cantly higher than those in American and Spanish populations. No significant difference was found in the distribution of HSPTO-2 polymorphism between Chinese and Japanese populations, in which the differences among American, Mexican and Spanish populations were quite obvious. The frequency of AA homozygote in HSPTO-2 was significantly higher than those in Mexican, American and Spanish populations, while, the distribution of HSPTO-hom genotype and allele frequency in Chinese Han population was almost just the same as those in Japanese and Mexican populations. Furthermore, it was also found that the genotype distribution and allele frequencies of the HSPTO genes in Han population of Fujian province were almost the same as those in Han population in Taiwan, but they were different in certain loci from those of Han population in Wuhan area. It is evident that the distribution of HSPTO gene polymorphisms among Chinese Han population are different from other regions in the world.展开更多
基金the National Natural Science Foundation of China,No.82160402Special Fund for Training Leading Medical Talents in Yunnan Province,China,No.L-2019022。
文摘BACKGROUND The global prevalence of type 2 diabetes mellitus(T2DM)is increasing.T2DM is associated with alterations of the gut microbiota,which can be affected by age,illness,and genetics.Previous studies revealed that there are discriminating microbiota compositions between the Dai and the Han populations.However,the specific gut microbiota differences between the two populations have not been elucidated.AIM To compare the gut microbiota differences in subjects with and without T2DM in the Dai and Han populations.METHODS A total of 35 subjects of the Han population(including 15 healthy children,8 adult healthy controls,and 12 adult T2DM patients)and 32 subjects of the Dai population(including 10 healthy children,10 adult healthy controls,and 12 adult T2DM patients)were enrolled in this study.Fasting venous blood samples were collected from all the subjects for biochemical analysis.Fecal samples were collected from all the subjects for DNA extraction and 16S rRNA sequencing,which was followed by analyses of the gut microbiota composition.RESULTS No significant difference in alpha diversity was observed between healthy children and adults.The diversity of gut microbiota was decreased in T2DM patients compared to the healthy adults in both the Dai and Han populations. There was a significant difference in gut microbiota between healthy children and healthy adults in the Hanpopulation with an increased abundance of Bacteroidetes and decreased Firmicutes in children. However, thisdifference was less in the Dai population. Significant increases in Bacteroidetes in the Han population and Proteobacteriain the Dai population and decreases in Firmicutes in both the Han and Dai population were observed inT2DM patients compared to healthy adults. Linear discriminant analysis Effect Size analysis also showed that thegut microbiota was different between the Han and Dai populations in heathy children, adults, and T2DM patients.Four bacteria were consistently increased and two consistently decreased in the Han population compared to theDai population.CONCLUSION Differences in gut microbiota were found between the Han and Dai populations. A significant increase inBacteroidetes was related to the occurrence of T2DM in the Han population, while a significant increase in Proteobacteriawas related to the occurrence of T2DM in the Dai population.
文摘This meta-analysis compared the therapeutic effect of cable pin system(CPS) with K-wire tension band(KTB) in the treatment of patella fractures among Chinese Han population. The databases of PubM ed, Cochrane library, China National Knowledge Infrastructure(CNKI), Chinese Wan Fang and Chinese VIP were searched for studies on CPS versus KTB in the treatment of patella fractures among Chinese Han population. Literatures were screened according to the inclusion and exclusion criteria. The quality of the studies was assessed, and meta-analysis was performed using the Cochrane Collaboration's REVMAN 5.3 software. A total of 932 patients from 15 studies were included in this meta-analysis(426 fractures treated with CPS and 506 fractures treated with KTB). There were significant differences in duration of hospital stay [mean difference(MD)=–1.07; 95% confidence interval(CI): –1.71 to –0.43], fracture healing time(MD=–1.23; 95% CI: –1.68 to –0.77), flexion degree of knee joint at 6 th month after operation(MD=14.82; 95% CI: 10.93 to 18.71), incidence of postoperative complication [risk ratio(RR)=0.16; 95% CI: 0.09 to 0.27] and excellent-good rate of B?stman score(RR=1.09; 95% CI: 1.03 to 1.16) between the CPS group and KTB group, while no significant difference was found in operative time between the two groups(MD=–4.52; 95% CI: –11.70 to 2.67). For the treatment of patella fractures among Chinese Han population, limited evidence suggests that the CPS is more suitable than the KTB when considering the hospital stay, fracture healing time, flexion degree of knee at 6 th month after operation, incidence of postoperative complication and excellent-good rate of B?stman joint score. Due to the limitation of high quality evidence and sample size, more large-scale randomized controlled trials are needed to validate the findings in the future.
基金supported by a grant from the National Natural Science Foundation of China,No.81070913
文摘Thromboxane A synthase 1 (TBXAS1) catalyses the synthesis of thromboxane A2 (TXA2), which plays an important role in the pathogenesis of ischemic stroke. Thus, the TBXAS1 gene was investigated as a candidate gene involved in the formation of atherosclerosis. This case-control study collected peripheral blood specimens and clinical data of 370 ischemic stroke patients and 340 healthy controls in the Northern Chinese Han population from October 2010 to May 2011. Two TBXAS1 single-nucleotide polymorphisms, rs2267682 and rs10487667, were analyzed using a SNaPshot Multiplex sequencing assay to explore the relationships between the single-nucleotide polymorphisms in TBXAS1 and ischemic stroke. The TT genotype frequency and T allele frequency of rs2267682 in the patients with ischemic stroke were significantly higher than those in the controls (P 〈 0.01 and P = 0.02). Furthermore, compared with the GG + GT genotype, the TT rs2267682 genotype was associated with increased risk of ischemic stroke (odds ratio (OR) = 1.80, 95% confidence interval (CI): 1.16–2.79, P 〈 0.01). Multivariate logistic analysis with adjustments for confounding factors revealed that rs2267682 was still associated with ischemic stroke (OR = 1.94,95% CI : 1.13–3.33, P = 0.02). The frequency of the T-G haplotype in the patients was significantly higher than that in the controls according haplotype analysis (OR = 1.49, 95% CI: 1.10–2.00, P 〈 0.01). These data reveal that the rs2267682 TBXAS1 polymorphism is associated with ischemic stroke. The TT genotype of TBXAS1 and T allele of rs2267682 increase susceptibility to ischemic stroke in this Northern Chinese Han population. The protocol has been registered with the Chinese Clinical Trial Registry (registration number: ChiCTR-COC-17013559).
基金Supported by National Natural Science Foundation of China(No.81270903)Science and Technology Commission of Shanghai Municipality(No.13140901600)
文摘AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy(DR) in Chinese population.·METHODS: A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus(T2DM). A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant(rs10946398) of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression(MLR) analysis.· RESULTS: There were significant differences in C allele frequencies of rs10946398(CDKAL1) between control and DR groups(45.06% versus 55.00%, P 〈0.05).The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION: Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.
基金supported by grants from the National Natural Sciences Foundation of China (No. 30525031 and No.30430590)
文摘Associations between "lipid-related" candidate genes,blood lipid concentrations and coronary artery disease(CHD) risk are not clear.We aimed to investigate the effect of three newly identified lipids loci from genome-wide association studies on CHD and blood lipid levels in Chinese Han population.The genotypes of SNPs at three newly identified lipid loci and blood lipids concentrations were examined in 1360 CHD patients and 1360 age-and sex-frequency matched controls from an unrelated Chinese Han population.Allele T of rs16996148 occurred less frequently in CHD patients with the odds ratio(OR) being 0.64(95% CI 0.50 to 0.81),after adjusting for conventional risk factors and was associated with a 33% decreased CHD risk(P0.01) comparing with the major allele G.Individuals with GT genotype had the lowest CHD risk.No associations were found between the polymorphisms of other two loci with CHD risk and all three SNPs had no effect on lipid profile in this population.SNP rs16996148 on chromosome 19p13 is significantly associated with lower risk for CHD in Chinese Han population.However,it remains unresolved why these lipid-related loci had significantly less effects than the correspondingly expected effects on blood lipids levels in this population.
基金funded by the National Natural Science Foundation of China,No.30560042 and 81260194Jiangxi Provincial Health Bureau of Science and Technology Program,No.20111028
文摘A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau (MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis. Here, we tested this association in 107 sporadic amyotrophic lateral sclerosis patients and 100 healthy controls from the Chinese Han population. We screened the mutation-susceptible regions of MAPT- the 3' and 5' untranslated regions as well as introns 9, 10, 11, and 12 - by direct sequencing, and identified 33 genetic variations. Two of these, 105788 A 〉 G in intron 9 and 123972 T 〉 A in intron 11, were not present in the control group. The age of onset in patients with the 105788 A 〉 G and/or the 123972 T 〉 A variant was younger than that in patients without either genetic variation. Moreover, the pa- tients with a genetic variation were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype. This led to a shorter survival period in patients with a MAPT genetic variant. Our study suggests that the MAPT gene is a potential risk gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.
文摘BACKGROUND: It is of significance for single nucleotide polymorphisms (SNPs), a difference of rank, which exists widely in biology, genetics and other fields. OBJECTIVE: To detect polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province. DESIGN: Simple random sampling. SETTING: Department of Surgery of the 118 Hospital of Chinese PLA.PARTICIPANTS: A total of 80 healthy people in Han nationality were selected from hospitals in Zhejiang province from August 2005 to January 2006. There were 43 males and 37 females aged from 3 to 78 years with the mean age of 39.5 years, and all subjects were consent. DNA which was used in genetic analysis was selected from peripheral venous blood of all subjects and maintained at -20℃.METHODS: Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene were detected with directly DNA sequencing technique. MAIN OUTCOME MEASURES : Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province. RESULTS: A total of 80 samples were involved in the final analysis. SNPs sites were found at the 119^th base of exon-4 of p53 gene (the 72^nd codon of p53 gene), the 670^th base of upper start codon in promotor of Fas gene (Fas-670), and the 995^th base of intron-7 of Fas gene, especially SNPs in the 995^th base of intron-7 pf Fas gene, i.e. C→A transversion, was a new site.CONCLUSION : One unknown SNPs site is discovered in intron-7 of Fas gene of people in Han nationality in Zhejiang province. This study also proves that the 72^nd codon exists in p53 gene and the -670 polymorphism site exists in promotor of Fas gene.
基金Supported by a grant from Desert Foundation (2003),Salt Lake City,USA
文摘Objective To investigate the levels of cardiovascular disease risk factors and their relations to clinical phenotype associated with coronary artery disease(CAD).Methods The subjects were recruited from five independent cardiovascular centers.Coronary angiography was employed to define the CAD with stenosis in each major vessel ≥70% and control with stenosis <10% in every lesion.The classic risk factors including family history,body mass index,smoking habits,hypertension,diabetes mellitus,and serum lipid levels were surveyed according to established criteria.Associations between risk levels and clinical phenotypes were assessed by case control and correlation analysis.Results A total of 762 individuals were collected,including 481 men and 281 women,aged from 17 to 81(mean 60±10) years.The patients with CAD accounted for 55.5% of all participants,and controls 44.5%,respectively.Compared with the pattern in published data,our study showed that mean serum high density lipoprotein cholesterol(HDL-C) level was significantly lower(P<0.001) and triglycerides was significantly higher(P<0.001),while total cholesterol(TC) and low density lipoprotein cholesterol levels were comparative(both P>0.05).The prevalence of low HDL-C(<40 g/L) and hypertriglyceridemia(>150 g/L) were 27.2% and 41.4%,respectively.Mean serum levels of HDL-C and apolipoprotein A1 were significantly higher in female subjects than in male(P<0.001).Lower HDL-C functioned as an independent risk factor for CAD only in men(RR=2.8,95%CI:1.5-4.2,P<0.001),yet increased non-HDL cholesterol combined with diabetes mellitus and obesity seemed to play a key role in the development ofCAD in women.Similarity in risk association with CAD was found for hypertension and TC/HDL ratio in male and female subjects,while family history had no relationship with the presence of CAD.Conclusion It is remarkable that emphasis of intervention in future should be given on the prevalent low serum HDL-C and its strong risk correlation with the presence of CAD in male subjects of Chinese Han population.
文摘Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup of the Yao minority in China.The present study was undertaken association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 649 subjects of Bai Ku Yao and 646 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the PCSK9 E670G polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing. Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C) and apolipoprotein(Apo) AI were lower in Bai Ku Yao than in Han(P【0.01 for all).The frequency of A and G alleles was 98.00%and 2.00%in Bai Ku Yao,and 95.20%and 4.80%in Han(P【0.01);respectively. The frequency of AA,AG and GG genotypes was 95.99%,4.01%and 0%in Bai Ku Yao,and 91.02%, 8.36%and 0.62%in Han(P【0.01);respectively.There were also significant differences in the genotypic and allelic frequencies between n and the ratio of ApoAI to ApoB in Han Chinese but not in Bai Ku Yao were different between the AA and AG/GG genotypes(P【0.05 for all).The G allele carriers had higher serum HDL-C and higher ApoAI to ApoB ratio than the G allele noncarriers.When serum lipid parameters in Han were analyzed according to sex,the G allele carriers had higher serum HDL and ApoAI levels in males (P【0.05),and lower ApoB level and higher ApoAI to ApoB ratio in females(P【0.05 for all).Multiple linear regression analysis showed that serum HDL-C levels were correlated with genotypes in both ethnic groups(P【0.05 each).Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption,cigarette smoking,and blood pressure in both ethnic groups(P【0.05-0.001).Conclusions These results suggest that the PCSK9 E670G polymorphism is mainly associated with some serum lipid parameters in the Han population,both gender show different relations to different serum lipid parameters.The G allele carriers might have higher serum lipid profiles than the G allele noncarriers. ormal LDL-C(≤3.20 mmol/L) and high LDL-C subgroups (】 3.20 mmol/L,P【0.01;respectively) in Bai Ku Yao, and between normal ApoB(≤1.14 g/L) and high ApoB subgroups(】 1.14 g/L,P 【 0.01;respectively) in Han.
基金the National Natural Science Foundation of China (No.81770917)。
文摘AIM:To explore the association of single nucleotide polymorphisms(SNPs)in the IL33/IL1RL1 gene region with the susceptibility to Behcet’s disease(BD)in a Chinese Han population.METHODS:A total of eight SNPs in the candidate gene region(rs11792633,rs7025417,rs10975519 and rs1048274 in IL33;rs2310220,rs12712142,rs13424006 and rs3821204 in IL1RL1)were genotyped in783 BD patients and 701 healthy controls by the Sequenom Mass Array i PLEX platform.RESULTS:A statistically significant association was observed between IL1RL1 rs12712142 and BD patients.The frequency of IL1RL1 rs12712142 variant allele A was significantly lower in BD patients than that in controls(OR=0.8,95%CI:0.69-0.94,Pc=0.039);the genotype distribution(Pc=0.043)and additive and dominant genetic model analyses(OR=0.8,95%CI:0.69-0.94,Pc=0.040 and OR=0.72,95%CI:0.58-0.88,Pc=0.011)also indicated a strong association between rs12712142 and BD patients.CONCLUSION:This is the first study to reveal the association between IL1RL1 rs12712142 variant allele A and the decreased risk of BD in the Chinese Han population,indicating a protective role of IL1RL1 in the pathogenesis of BD.
文摘Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677Tpolymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol(LDL-C), apolipoprotein(Apo) AI and ApoB were lower in Bai Ku Yao than in Han(P【0.05-0.001).The frequency of C and T alleles was 77.4%and 22.6%in Bai Ku Yao,and 60.9%and 39.1%in Han(P【0.001);respectively.The frequency of CC,CT and TT genotypes was 58.7%,37.3%and 4.0%in Bai Ku Yao,and 32.6%,56.4%and 11.0%in Han(P【 0.001);respectively.The levels of TC and LDL-C in both ethnic groups were significant differences among the three genotypes(P【0.05-0.01).The T allele carriers had higher serum TC and LDL-C levels than the T allele noncarriers. The levels of ApoB in Han were significant differences among the three genotypes(P【0.05).The T allele carriers had higher serum ApoB levels as compared with the T allele noncarriers. The levels of TC,TG and LDL-C in Bai Ku Yao were correlated with genotypes(P【0.05-0.001),whereas the levels of LDL-C in Han were associated with genotypes(P【 0.001).Serum lipid parameters were also correlated with sex, age,body massindex,alcohol consumption,cigarette smoking, and blood pressure in the both ethnic groups.Conclusions The differences in serum TC,TG,LDL-C and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of the MTHFR C677Tor differentMTHFR gene-enviromental interactions.
文摘Objectives Phenotypic switching of smooth muscle cells(SMCs) plays a critical role in the pathogenesis of atherosclerotic lesions such as coronary artery disease (CAD).Accumulating evidence demonstrates(hat a cellular repressor of E1A-stimulated genes(CREG) plays a role in the maintenance of the mature phenotype of vascular SMCs. The purpose of the present study was to assess the possible association between CREG and CAD in the Han population of North China.Methods The promoter region of CREG by direct sequencing was conducted in 48 subjects.Then SNP rs2995073 and another 4 tagSNPs(rs4657669,rs3767443, rsl6859185,rs3753921) were selected for the association study.All five selected SNPs were determined in 1161 patients with angiographically proven CAD and 960 controls with normal coronary angiograms to investigate the possible involvement of CREG in CAD.Results Genotype frequencies of the five examined polymorphisms were similarly distributed between CAD group and controls(P】0.05).Further haplotype analysis also found no significant differences in the distributions between CAD group and controls(P】0.05). Conclusions This study did not show an association between common variants of CREG and CAD in the northern Chinese Han population.
文摘The angiotensin-converting enzyme gene is a candidate gene of stroke. The present study involved 62 healthy volunteers and 148 patients with middle cerebral artery stenosis as confirmed by brain color ultrasound from a Han population in North China, and determined the peripheral blood angiotensin-converting enzyme genotype using PCR-restriction fragment length polymorphism analysis. The results showed that the frequencies of the DD genotype and D allele were increased in patients with middle cerebral artery stenosis, but the difference was not statistically significant compared with healthy controls. The findings of this study on the relationship between stroke genes and middle cerebral artery stenosis indicate no significant correlation between the frequencies of the DO genotype and D allele of angiotensin-converting enzyme and middle cerebral artery stenosis in this Han population from North China. In the future, studies will be carried out to investigate correlations between multiple stroke candidate gene synergy and middle cerebral artery stenosis to provide a foundation for the development of gene therapy.
基金supported by the National Natural Science Foundation of China, No.81901189the Natural Science Foundation of Liaoning Province of China, No.2019-BS-147(both to YZW)。
文摘Ischemic stroke is a complicated disease, and its pathogenesis has been attributed to the occurrence of genetic polymorphisms.Evidence has suggested that the microRNA let-7a is involved in the pathogenesis of ischemic stroke.Pri-miRNA is the primary transcript, which undergoes several processing steps to generate pre-miRNA and, later, mature miRNAs.In this case-control study, we analyzed the distribution of prilet-7a-2 variants in patients at a high risk for ischemic stroke and the interactions of pri-let-7a-2 variants and environmental factors.Blood samples and clinical information were collected from 1086 patients with ischemic stroke and 836 healthy controls between December 2013 and December 2015 at the First Affiliated Hospital of China Medical University.We found that the rs1143770 CC genotype and the C allele were associated with a decreased risk of ischemic stroke, whereas the rs629367 CC genotype was associated with an increased risk for ischemic stroke.Moreover, these two single-nucleotide polymorphisms were in linkage disequilibrium in this study sample.We analyzed gene-environment interactions and found that rs1143770 exerted a combined effect on the pathogenesis of ischemic stroke, together with alcohol use, smoking, and a history of hypertension.Therefore, the detection of pri-let-7a-2 polymorphisms may increase the awareness of ischemic stroke risk.This study was approved by the Institutional Ethics Committee of the First Affiliated Hospital of China Medical University, China(approval No.2012-38-1) on February 20, 2012, and was registered with the Chinese Clinical Trial Registry(registration number: ChiCTR-COC-17013559) on December 27, 2017.
基金supported by grants from National Nature Science Foundation Committee of China(No.30600187,No.30770751)
文摘KCNK17 is a member of the acid-sensitive subfamily of tandem pore K+ channels,which are open at all membrane potentials and contribute to cellular resting membrane potential.Recent genome-wide study(GWA)has shown that variants within KCNK17 confer genetic susceptibility for increasing ischemic stroke.In an effort to discover additional polymorphism(s),we scrutinized the genetic polymorphisms in the KCNK17.By direct DNA sequencing in 32 individuals,we identified nine sequence variants within the 16kb of whol...
文摘Objectives To study the association of single nucleotide polymorphism (SNP) rs2076185 in chromosome 6p24.1 with the premature coronary artery diseases (PCAD) in Chinese Hun population. Methods A total of 1382 patients were divided into the PCAD group and the control group based on their coronary arteriography (CAG) results. Their SNP rs2076185 were analyzed by the mass-spectrometry. Their allele and genotype frequency in Hardy-Weinberg equilibrium were calculated for assessment. Logistic regression was employed to remove confounding factors and correlate SNP rs2076185 with PCAD. Results The allele and genotype frequencies of the control group were in Hardy-Weinberg equilibrium (P 〉 0.05). The frequencies of allele G of rs2076185 were 54.2% in the PCAD group and 49.5% in the control group. The difference was significant (P = 0.042). The genotype distribution ofrs2076185 of the two groups was also significantly different. The univariate analysis showed that the rs2076185 polymorphisms were associated with the PCAD only in the additive model (OR: 0.828, 95% CI: 0.711-0.964, P = 0.014), and in the dominant model (OR: 0.753, 95% CI: 0.591-0.958, P = 0.021). After removing the confound- ing variables, the rs2076185 polymorphisms was associated with PCAD in the additive model (OR: 0.775, 95% CI: 0.648-0.928, P = 0.005), in the dominant model (OR: 0.698, 95% CI: 0.527-0.925, P = 0.012), and in the recessive model (OR: 0.804, 95% CI: 0.538-0.983, P - 0.038). Conclusion Allele G of rs2076185 reduces the PCAD risks in Chinese Hun population, therefore it could be a coronary artery diseases protective factor in Chinese Hun population.
文摘To understand the polymorphism of the heat shock protein 70 (HSPTO) genes in Chinese Han population and to explore the co-relations between HSP70 polymorphism and disease, three polymorphic loci of HSP70 genes in 127 healthy Chinese Han population in Fujian province were analyzed by PCR and restriction enzyme analysis, and the genotypes and allele frequencies of HSPTO in different populations from various area were compared. It was found that the proportions of HSPTO-1 genotypes GG, GC and CC among Chinese Han population in Fujian province were 55.1%, 40.2% and 4.7% respectively, while those of HSP70-2 genotypes AA, AG and GG were 44.1%, 48.8 % and 6.9% respectively, and those of HSP70-hom genotypes TF, TC and CC were 59.8%, 37.0% and 3.2% respectively. The allele frequencies of G and C in HSP70-1 were 75.2% and 24.8% ; those of A and G in HSP70-2 were 68.5% and 31.5% and those ofT and C in HSP70-hom were 78.3% and 21.7% respectively. The distribution of the HSPTO-1 polymorphisms in Chinese Han population was almost the same as those in Japanese and Mexican populations, but it was rather different from those of American and Spanish populations with a significant differences. Meanwhile, the frequency of GG homozygote in HSPTO- 1 was signifi- cantly higher than those in American and Spanish populations. No significant difference was found in the distribution of HSPTO-2 polymorphism between Chinese and Japanese populations, in which the differences among American, Mexican and Spanish populations were quite obvious. The frequency of AA homozygote in HSPTO-2 was significantly higher than those in Mexican, American and Spanish populations, while, the distribution of HSPTO-hom genotype and allele frequency in Chinese Han population was almost just the same as those in Japanese and Mexican populations. Furthermore, it was also found that the genotype distribution and allele frequencies of the HSPTO genes in Han population of Fujian province were almost the same as those in Han population in Taiwan, but they were different in certain loci from those of Han population in Wuhan area. It is evident that the distribution of HSPTO gene polymorphisms among Chinese Han population are different from other regions in the world.