AIM: To investigate the polymorphisms of interleukin-18 (IL-18) gene promoters, and to disclose whether such polymorphisms are associated with susceptibility to chronic hepatitis B in Chinese Han population. METHODS: ...AIM: To investigate the polymorphisms of interleukin-18 (IL-18) gene promoters, and to disclose whether such polymorphisms are associated with susceptibility to chronic hepatitis B in Chinese Han population. METHODS: Using polymerase chain reaction with sequence specific primers (PCR-SSP) method, the single nucleotide polymorphisms (SNPs) of the promoter region of IL-18 gene at position -607 and -137 were detected in 231 patients with chronic hepatitis B and 300 normal controls. RESULTS: Allele C at position -607 in the promoter of IL-18 gene was detected in 48.7% of normal controls and 51.9% of patients, while allele A at position -607 was detected in 51.3% of normal controls and 48.1% of patients. The frequencies of -607CC, -607 CA and -607AA genotypes in normal controls were 22.0%, 53.3% and 24.7% respectively and in chronic hepatitis B patients were 26.8%, 50.2% and 23.0% respectively. Allele G at position -137 in the promoter of IL-18 gene was detected in 82.3% of normal controls and 88.5% of chronic hepatitis B patients, while allele C at position -137 was detected in 17.7% of normal controls and 11.5% of patients. The frequencies of -137GG, GC and CC genotype were 67.3%, 30.0% and 2.7% in normal controls respectively, while in chronic hepatitis B patients were 78.8%, 19.5% and 1.7% respectively. The frequency of-137GG genotype in chronic hepatitis B groups was significantly higher than that in normal controls (x2=8.55, P=0.003 <0.05), whereas the frequencies of -607C/-137C and -607A/-137C haplotypes in chronic hepatitis B groups were significantly lower than that in normal controls. The association between genotypes of IL-18 promoter region polymorphisms and HBV copies showed that the frequency of -607AA genotype in high HBV-DNA copies groups was lower than that in low HBV-DNA copies groups (x2=6.03, P=0.014 <0.05). CONCLUSION: The polymorphisms of the promoter region of IL-18 gene at position -607 and -137 are closely associated with susceptibility to chronic hepatitis B. The people with allele C at position -137 in the promoter of IL-18 gene may be protected against HBV infection; moreover AA genotype at position -607 may be closely linked to inhibit HBV-DNA replication. These findings give some new clues to the study of pathogenesis of chronic hepatitis B.展开更多
Objective To examine the relationship between apolipoprotein E (Apo E) gene polymorphism and risk of coronary artery disease (CAD), analyzing association of polymorphism with classical risk factors. Methods A total of...Objective To examine the relationship between apolipoprotein E (Apo E) gene polymorphism and risk of coronary artery disease (CAD), analyzing association of polymorphism with classical risk factors. Methods A total of 124 patients (including 84 Han population and 40 Uygur population) with angiographically verified CAD or myocardial infarction were prospectively evaluated. Data referring to hypertension, diabetes, and tobacco consump-tion were recorded. The levels of total cholesterol (TC), high density lipoprotein (HDL) cholesterol, Apo A1 and B, and triglycerides (TG) were determined. DNA was obtained from 124 patients and 70 controls. In order to determine Apo E genotypes, DNA was PCR amplified and digested with HhaI. The genetic polymorphism of Apo E is due to three common alleles, epsilon(ε) 2, ε3, ε4, at a single autosomal gene locus. These alleles determine the six phenotypes E2/2, E3/3, E4/4, E4/2, E4/3, and E3/2. Results In Uygur population, the frequency of the ε2, ε3, and ε4 was 0.155, 0.648, and 0.197 respectively. In Han po-pulation, the frequency of the ε2, ε3, and ε4 was 0.081, 0.772, and 0.146 respectively. In the patient group, the frequency of the ε2, ε3, and ε4was 0.060, 0.758, and 0.182 respectively. In the control group, the frequency of the ε2, ε3, and ε4 was 0.193, 0.671, and 0.136 respectively. ε2 frequency of Uygur’ patients and controls was 0.050 and 0.290 respectively. Serum low density lipoprotein (LDL) cholesterol, TC, and TG values tended to decrease from the Apo E-4 phenotypes to Apo E-2 phenotypes. When deletion polymorphism of ε2 was compared with the common risk factors for CAD, its risk ratio (RR) is 4.38. Conclusions These studies confirm and find that Apo E phenotype distribution in Uygur population differs significantly from that in Han population in Xinjiang. CAD patients have significantly lower ε2 allele and slightly higher ε3 or ε4 allele frequency than controls, especially in Uygur population. It shows protective effects of ε2 on CAD.展开更多
AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF...AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) with the colorectal carcinoma (CRC) risk in Han Chinese. METHODS: Polymorphisms of LBP (rs1739654, rs223 2596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study. Single-nucleotide polymorphisms (SNPs) between cases and controls were analyzed by unconditional logistic regression. RESULTS: GA and GG genotypes of LBP rs2232596 were associated with a significantly increased risk ofCRC [odds ratio (OR) = 1.51, 95% confidence interval (CI) 1.15-1.99, P = 0.003; OR = 2.49, 95% CI 1.16-5.38, P = 0.016, respectively]. A similar association was also observed for the CG genotype of CD14 rs4914 (OR= 1.69, 95% CI 1.20-2.36, P = 0.002). In addition, a combination of polymorphisms in LBP rs2232596 and CD14 rs4914 led to a 3.4-fold increased risk of CRC (OR = 3.44, 95% CI 1.94-6.10, P = 0.000). CONCLUSION: This study highlights the LBP rs2232596 and CD14 rs4914 polymorphisms as biomarkers for elevated CRC susceptibility in the Chinese Han population.展开更多
AIM:To investigate the associations between interleukin(IL)-1B and IL-1RN polymorphisms and gastric cancers among the Tibet,Hui and Han ethnicities.METHODS:Genomic DNA was extracted from peripheral blood of 210,205,an...AIM:To investigate the associations between interleukin(IL)-1B and IL-1RN polymorphisms and gastric cancers among the Tibet,Hui and Han ethnicities.METHODS:Genomic DNA was extracted from peripheral blood of 210,205,and 202 healthy volunteers and from 155,158,and 197 gastric cancer patients from the Tibet,Hui,and Han populations,respectively.Polymorphisms in IL-1B and IL-1RN were analyzed by denaturing high-performance liquid chromatography.RESULTS:Carriers of the IL-1B-31 CC genotype had an increased risk of intestinal type gastric cancer [odds ratio(OR) = 2.17,P = 0.037] in the Tibet ethnicity.Carriers of the IL-1B 2/L genotype had an increased risk of both intestinal and diffuse types of gastric cancer(OR = 2.08,2.31,P = 0.007,0.016,respectively) in the Hui ethnicity.In the Han population,carriers of the IL-1B-31 CC,IL-1B-511CT,TT genotypes had increased risk of intestinal type gastric cancer(OR = 2.51,2.74,5.66,P = 0.005,0.002,0.000,respectively).CONCLUSION:IL-1B and IL-RN genotypes may differentially contribute to gastric cancer among the Tibet,Hui,and Han ethnicities in the Qinghai area of China.展开更多
AIM: To investigate risk factors for pancreatic cancer and establish a risk model for Han population. METHODS: This population-based case-control study was carried out from January 2002 to April 2004. One hundred an...AIM: To investigate risk factors for pancreatic cancer and establish a risk model for Han population. METHODS: This population-based case-control study was carried out from January 2002 to April 2004. One hundred and nineteen pancreatic cancer patients and 238 healthy people completed the questionnaire which was used for risk factor analysis. Logistic regression analysis was used to calculate odds ratio (ORs), 95% confidence intervals (CIs) and 113 value, which were further used to establish the risk model. RESULTS: According to the study, people who have smoked more than 17 pack-years had a higher risk to develop pancreatic cancer compared to non-smokers or light smokers (not more than 17 pack-years) (OR 1.98; 95% CI 1.11-3.49, P=0.017). More importantly, heavy smokers in men had increased risk for developing pancreatic cancer (OR 2.11; 95% CI 1.18-3.78, P=0.012) than women. Heavy alcohol drinkers (〉20 cup-years) had increased risk for pancreatic cancer (OR 3.68; 95% CI 1.60-8.44). Daily diet with high meat intake was also linked to pancreatic cancer. Moreover, 18.5% of the pancreatic cancer patients had diabetes mellitus compared to the control group of 5.8% (P= 0.0003). Typical symptoms of pancreatic cancer were anorexia, upper abdominal pain, bloating, jaundice and weight loss. Each risk factor was assigned a value to represent its importance associated with pancreatic cancer. Subsequently by adding all the points together, a risk scoring model was established with a value higher than 45 as being at risk to develop pancreatic cancer.CONCLUSION: Smoking, drinking, high meat diet and diabetes are major risk factors for pancreatic cancer. A risk model for pancreatic cancer in Chinese Han population has been established with an 88.9% sensitivity and a 97.6% specificity.展开更多
AIM:To investigate the incidence of gastroesophageal reflux disease(GERD) and its related risk factors in Uygur and Han Chinese adult in Urumqi,China.METHODS:A population-based cross-sectional survey was undertaken in...AIM:To investigate the incidence of gastroesophageal reflux disease(GERD) and its related risk factors in Uygur and Han Chinese adult in Urumqi,China.METHODS:A population-based cross-sectional survey was undertaken in a total of 972 Uygur(684 male and 288 female) aged from 24 to 61 and 1023 Han Chinese(752 male and 271 female) aged from 23 to 63 years.All participants were recruited from the residents who visited hospital for health examination from November 2011 to May 2012.Each participant signed an informed consent and completed a GERD questionnaire(GerdQ) and a lifestyle-food frequency questionnaire survey.Participants whose Gerd Q score was ≥ 8 and met one of the following requirements would be enrolled into this research:(1) being diagnosed with erosive esophagitis(EE) or Barrett's esophagus(BE) by endoscopy;(2) negative manifestation under endoscopy(non-erosive reflux disease,NERD) with abnormal acid reflux revealed by 24-h esophageal pH monitoring;and(3) suffering from typical heartburn and regurgitation with positive result of proton pump inhibitor test.RESULTS:According to Gerd Q scoring criteria,340 cases of Uygur and 286 cases of Han Chinese were defined as GERD.GERD incidence in Uygur was significantly higher than in Han Chinese(35% vs 28%,χ2 = 11.09,P < 0.005),Gerd Q score in Uygur was higher than in Han Chinese(7.85 ± 3.1 vs 7.15 ± 2.9,P < 0.005),and Gerd Q total score in Uygur male was higher than in female(8.15 ± 2.8 vs 6.85 ± 2.5,P < 0.005).According to normalized methods,304(31%) cases of Uygur were diagnosed with GERD,including 89 cases of EE,185 cases of NERD and 30 cases of BE;256(25%) cases of Han Chinese were diagnosed with GERD,including 90 cases of EE,140 cases of NERD and 26 cases of BE.GERD incidence in Uygur was significantly higher than in Han Chinese(31% vs 25%,χ2 = 9.34,P < 0.005) while the incidences were higher in males of both groups than in females(26% vs 5% in Uygur,χ2 = 35.95,P < 0.005,and 19.8% vs 5.2% in Han,χ2 = 5.48,P < 0.025).GERD incidence in Uygur male was higher than in Han Chinese male(26% vs 19.8%,χ2 = 16.51,P < 0.005),and incidence of NERD in Uygur was higher than in Han Chinese(χ2 = 10.06,P < 0.005).Occupation(r = 0.623),gender(r = 0.839),smoking(r = 0.322),strong tea(r = 0.658),alcohol drinking(r = 0.696),meat-based diet(mainly meat)(r = 0.676) and body mass index(BMI)(r = 0.567) were linearly correlated with GERD in Uygur(r = 0.833,P = 0.000);while gender(r = 0.957),age(r = 0.016),occupation(r = 0.482),strong tea(r = 1.124),alcohol drinking(r = 0.558),meat diet(r = 0.591) and BMI(r = 0.246) were linearly correlated with GERD in Han Chinese(r = 0.786,P = 0.01).There was no significant difference between Gerd Q scoring and three normalized methods for the diagnosis of GERD.CONCLUSION:GERD is highly prevalent in adult in Urumqi,especially in Uygur.Male,civil servant,smoking,strong tea,alcohol drinking,meat diet and BMI are risk factors correlated to GERD.展开更多
Objective To explore the association between the three polymorphisms [ C825T, C1429T and G(-350)A] of the gene encoding the G protein beta 3 subunit (GNB3) and hypertension by performing a case-control study in th...Objective To explore the association between the three polymorphisms [ C825T, C1429T and G(-350)A] of the gene encoding the G protein beta 3 subunit (GNB3) and hypertension by performing a case-control study in the northern Han Chinese population. Methods We recnaited 731 hypertensive patients and 673 control subjects (the calculated power value was 〉 0.8). Genotyping was performed to identify C825T, C1429T and G(-350)A polymorphisms using the TaqMan assay. Comparisons of allelic and genotypic frequencies between cases and controls were made by using the chi-square test. Logistic regression analyses were performed to investigate the relationships between the three polymorphisms of GNB3 gene under different genetic models (additive, dominant and recessive models). Results The genotype dis- tribution and allele frequencies of C825T, C1429T and G(-350)A polymorphisms did not differ significantly between hypertensive patients and control subjects, either when the full sample was assessed, or when the sample was stratified by gender. No significant association was observed between C825T, C 1429T and G(-350)A polymorphisms and the risk of essential hypertension in any genetic model. Linkage dis- equilibrium was only detected between C825T and C 1429T polymorphisms. Haplotype analyses observed that none of the three estimated haplotypes significantly increased the risk of hypertension. Conclusions Our study suggested that the GNB3 gene polymorphisms [C825T, C 1429T and G(-350)A] were not significantly associated with essential hypertension in northern Han Chinese population.展开更多
AIM:To investigate the association between three tag single nucleotide polymorphisms (tagSNPs) in inter-feron regulatory factors (IRF3) and the genetic suscep-tibility to chronic hepatitis B virus (HBV) infection.METH...AIM:To investigate the association between three tag single nucleotide polymorphisms (tagSNPs) in inter-feron regulatory factors (IRF3) and the genetic suscep-tibility to chronic hepatitis B virus (HBV) infection.METHODS:We performed a case-control study of 985 Chinese cases of chronic HBV infection and 294 self-limiting HBV-infected individuals as controls.Three tagSNPs in IRF3 (rs10415576,rs2304204,rs2304206) were genotyped with the Multiplex SNaPshot technique.The genotype and allele frequencies were calculatedand analyzed.RESULTS:The three SNPs showed no significant geno-type/allele associations with chronic HBV infection.Overall allele P values were:rs10415576,P=0.0908,odds ratio (OR) [95% confidence interval (CI)]=1.1798 (0.9740-1.4291);rs2304204,P=0.5959,OR (95% CI)=1.0597 (0.8552-1.3133);rs2304206,P=0.8372,OR (95% CI)=1.0250 (0.8097-1.2976).Overall genotype P values were:rs10415576,P=0.2106;rs2304204,P=0.8458;rs2304206,P=0.8315.There were no statisti-cally significant differences between patients with chron-ic HBV infection and controls.Haplotypes generated by these three SNPs were also not significantly different between the two groups.CONCLUSION:The three tagSNPs of IRF3 are not asso-ciated with HBV infection in the Han Chinese population.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
Objective To study the association of DTNBP1 gene with some symptom factors of schizophrenia.Methods A total of 285 unrelated schizophrenic individuals were recruited from December 2004 to January 2009 for genetic ana...Objective To study the association of DTNBP1 gene with some symptom factors of schizophrenia.Methods A total of 285 unrelated schizophrenic individuals were recruited from December 2004 to January 2009 for genetic analysis,and their symptom factors were assessed based on the Positive and Negative Syndrome Scale(PANSS).The quantitative trait test was performed by the UNPHASED program(version 3.0.12) to investigate the association between scored positive and negative symptoms and the single nucleotide polymorphisms(SNPs) in DTNBP1 gene.Results The quantitative trait test showed allelic association of rs909706 with the excitement symptom of schizophrenia(P<0.05,adjusted by 10 000 permutations),while the genotype C/G of rs2619539 with a negative symptom,lack of spontaneity and flow of conversation(P<0.05,adjusted by 10 000 permutations).Conclusion DTNBP1 variations are possibly associated with some symptoms of schizophrenia,which could partly explain the relationship between the susceptibility gene DTNBP1 and that disease.展开更多
Objective To investigate the association between the polymorphism of C-689T in the peroxisome proliferator-activated receptor-γ2 (PPARγ2) promoter and coronary heart disease (CHD). Methods This case-controlled...Objective To investigate the association between the polymorphism of C-689T in the peroxisome proliferator-activated receptor-γ2 (PPARγ2) promoter and coronary heart disease (CHD). Methods This case-controlled study was conducted in nondiabetic Chinese Han people, which enrolled 455 patients with CHD (cases) and 693 subjects without CHD (controls). Data of clinical indexes were collected, including height, body weight, waist circumstance, systolic blood pressure (SBP), diastolic blood pressure (DBP), smoking, drinking, physical activity, as well as body mass index (BMI). Fasting blood glucose (FBG), plasma total cholesterol (TC) and triglyceride (TG) levels were measured. Polymerase chain reaction-restricted fragments length polymorphism (PCR-RFLP) was used to determine the PPARγ2 promoter C-689→T substitution. The genotype distribution of PPARγ2 promoter C-689T, allelic frequency, clinical indexes, and laboratorial measurements were compared between the two groups. The effect of genotype on the risk of CHD was assessed using univariate and multivariate regression model. Results The genotype frequencies of CC, CT and TT in PPARγ2 promoter C-689T were 89.7%, 9.9% and 0.4% in the case group, and 93.1%, 6.6% and 0.3% in the control group, respectively (CC vs. CT+TT, χ^2= 6.243, P=0.041). Carriers of -689T allele (n=95) had significantly higher TC level than non-carriers (n=1053) (5.12±1.26 vs. 4.76±1.22 mmol/L, P=0.001). Male carriers of -689T allele (n=51) were significantly higher in waist circumference, body weight, TC and TG than male non-carriers (n=656) (all P〈0.05). In subjects whose BMI was over 25 kg/m2, carriers of -689T allele (n=82) had significantly higher levels of waist circumference, BMI, SBP and TC than non-carriers (n=231) (all p〈0.05). The -689T allele was an independent risk factor for CHD (OR=1.668, 95%CI: 1.031-2.705, P=0.037) after adjusting for age, gender, waist circumference, body weight, BMI, smoking, physical activities, SBP, DBP, FBG, TC and TG level. Conclusion These data support the hypothesis that the -689T allele is associated with an increased risk of CHD, in Chinese Han people and correlates significantly with the profiles of CHD-related risk factors.展开更多
Objective To investigate the relationship between pemphigus vulgaris (PV) and human leukocyte antigen (HLA) in Han nation of northeast China. Mothods Standard microcytotoxicity test and polymerase chain reaction-...Objective To investigate the relationship between pemphigus vulgaris (PV) and human leukocyte antigen (HLA) in Han nation of northeast China. Mothods Standard microcytotoxicity test and polymerase chain reaction-sequence specific primers method were used to detect the HLA class Ⅰ antigens and HLA-DRBI and DQBI alleles in 27 patients with PV and results were compared with control group. Gene and phenotype frequencies of HLA-A3, A26(10), B60(40), and B13 (27.99%, 48%; 16.11%, 30%; 23.02%, 41%; 16.11%, 30%, respectively) increased significantly in PV group compared with control (1.01%, 2%; 0.5%, 1%; 4.61%, 9%; 5,13%, 10%, respectively). After P value correction, the difference of A3, A26 (10), and B60 (40) between the two groups was still significant. The gene frequencies of HLA-DRB 1^* 140x (1401, 1404, 1405, 1407, 1408), DRBI^*I20x, and DQBI*0503 alleles in PV group (42.26%, 25.46%, and 23.02%) were significantly higher than control group (5.09%, 7.74%, and 1.89%). After P value correction, the difference was still significant between the two groups. Collusion PV significantly relates with HLA in PV patients of Han nation of northeast China.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
Objective: To explore the possible mitochondrial DNA (mtDNA) polymorphism in Han Chinese. Methods: The complete mitochondrial genome of 26 unrelated healthy Han Chinese were extracted and sequenced. Results:The mtDNA ...Objective: To explore the possible mitochondrial DNA (mtDNA) polymorphism in Han Chinese. Methods: The complete mitochondrial genome of 26 unrelated healthy Han Chinese were extracted and sequenced. Results:The mtDNA nucleotide sites (2 706, 7 028, 8 860, 11 719, and 15 326) were found totally different from the Revised Cambridge Reference Sequence (rCRS). These single nucleotide polymorphisms (SNPs) were 2 706 A→G, 7 028 C→T, 8 860 A→G, 11 719 G→A, 15 326 A→G. Conclusion: These findings provide new insights into the characteristics of Han Chinese mitochondrial genetic diversity.展开更多
Objective: To study the sequence and function of the glial cell line-derived neurotrophic factor (GDNF) transcript in subjects of Han nationality. Methods: The Han nationality GDNF transcript was amplified by RT-PCR a...Objective: To study the sequence and function of the glial cell line-derived neurotrophic factor (GDNF) transcript in subjects of Han nationality. Methods: The Han nationality GDNF transcript was amplified by RT-PCR and expressed by baculovirus expression system. Biological activity of the expressed product was measured by the primary culture of midbrain dopaminergic neurons. Results: There only existed the shorter GDNF transcript of 555 bp in the Han nationality. The secretory expression product of the shorter transcript in insect cells promoted the survival and differentiation of dopaminergic neurons. Conclusion: It is found that there is a 78 bp deletion in the Han nationality GDNF transcript compared with the reported 633 bp GDNF transcript. The 78 bp deletion does not affect the secretory expression and biological activity of GDNF mature protein.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
Objective: To explore the relationship between the β 3-adrenergic receptor(β 3-AR)gene and obesity, T2DM, insulin resistance in Chinese Han population. Methods: Fifty-three healthy subjects, 105 subjects with simp...Objective: To explore the relationship between the β 3-adrenergic receptor(β 3-AR)gene and obesity, T2DM, insulin resistance in Chinese Han population. Methods: Fifty-three healthy subjects, 105 subjects with simple obesity, 63 type 2 diabetic patients without obesity, and 114 type 2 diabetic patients with obesity were studied with the technique of PCR-RFLP in codon 64 of the exon region of β 3-AR gene representing the variation Trp/Arg. Results: Compared with the subjects of Trp homozygous group, the individuals with Arg allele were more elevated in WHR,MBP,SBP,DBP,FBS,PBS,FINS,PINS,FCP,PCP and lower in ISI. Frequency of Arg allele was higher in HINS subgroup without T2DM. Conclusion: The results indicate that the Trp/Arg variation might lead to insulin resistance, obesity and T2DM.β 3-AR gene is supposed to be the candidate gene of insulin resistance, obesity and T2DM in Chinese Han population.展开更多
文摘AIM: To investigate the polymorphisms of interleukin-18 (IL-18) gene promoters, and to disclose whether such polymorphisms are associated with susceptibility to chronic hepatitis B in Chinese Han population. METHODS: Using polymerase chain reaction with sequence specific primers (PCR-SSP) method, the single nucleotide polymorphisms (SNPs) of the promoter region of IL-18 gene at position -607 and -137 were detected in 231 patients with chronic hepatitis B and 300 normal controls. RESULTS: Allele C at position -607 in the promoter of IL-18 gene was detected in 48.7% of normal controls and 51.9% of patients, while allele A at position -607 was detected in 51.3% of normal controls and 48.1% of patients. The frequencies of -607CC, -607 CA and -607AA genotypes in normal controls were 22.0%, 53.3% and 24.7% respectively and in chronic hepatitis B patients were 26.8%, 50.2% and 23.0% respectively. Allele G at position -137 in the promoter of IL-18 gene was detected in 82.3% of normal controls and 88.5% of chronic hepatitis B patients, while allele C at position -137 was detected in 17.7% of normal controls and 11.5% of patients. The frequencies of -137GG, GC and CC genotype were 67.3%, 30.0% and 2.7% in normal controls respectively, while in chronic hepatitis B patients were 78.8%, 19.5% and 1.7% respectively. The frequency of-137GG genotype in chronic hepatitis B groups was significantly higher than that in normal controls (x2=8.55, P=0.003 <0.05), whereas the frequencies of -607C/-137C and -607A/-137C haplotypes in chronic hepatitis B groups were significantly lower than that in normal controls. The association between genotypes of IL-18 promoter region polymorphisms and HBV copies showed that the frequency of -607AA genotype in high HBV-DNA copies groups was lower than that in low HBV-DNA copies groups (x2=6.03, P=0.014 <0.05). CONCLUSION: The polymorphisms of the promoter region of IL-18 gene at position -607 and -137 are closely associated with susceptibility to chronic hepatitis B. The people with allele C at position -137 in the promoter of IL-18 gene may be protected against HBV infection; moreover AA genotype at position -607 may be closely linked to inhibit HBV-DNA replication. These findings give some new clues to the study of pathogenesis of chronic hepatitis B.
文摘Objective To examine the relationship between apolipoprotein E (Apo E) gene polymorphism and risk of coronary artery disease (CAD), analyzing association of polymorphism with classical risk factors. Methods A total of 124 patients (including 84 Han population and 40 Uygur population) with angiographically verified CAD or myocardial infarction were prospectively evaluated. Data referring to hypertension, diabetes, and tobacco consump-tion were recorded. The levels of total cholesterol (TC), high density lipoprotein (HDL) cholesterol, Apo A1 and B, and triglycerides (TG) were determined. DNA was obtained from 124 patients and 70 controls. In order to determine Apo E genotypes, DNA was PCR amplified and digested with HhaI. The genetic polymorphism of Apo E is due to three common alleles, epsilon(ε) 2, ε3, ε4, at a single autosomal gene locus. These alleles determine the six phenotypes E2/2, E3/3, E4/4, E4/2, E4/3, and E3/2. Results In Uygur population, the frequency of the ε2, ε3, and ε4 was 0.155, 0.648, and 0.197 respectively. In Han po-pulation, the frequency of the ε2, ε3, and ε4 was 0.081, 0.772, and 0.146 respectively. In the patient group, the frequency of the ε2, ε3, and ε4was 0.060, 0.758, and 0.182 respectively. In the control group, the frequency of the ε2, ε3, and ε4 was 0.193, 0.671, and 0.136 respectively. ε2 frequency of Uygur’ patients and controls was 0.050 and 0.290 respectively. Serum low density lipoprotein (LDL) cholesterol, TC, and TG values tended to decrease from the Apo E-4 phenotypes to Apo E-2 phenotypes. When deletion polymorphism of ε2 was compared with the common risk factors for CAD, its risk ratio (RR) is 4.38. Conclusions These studies confirm and find that Apo E phenotype distribution in Uygur population differs significantly from that in Han population in Xinjiang. CAD patients have significantly lower ε2 allele and slightly higher ε3 or ε4 allele frequency than controls, especially in Uygur population. It shows protective effects of ε2 on CAD.
基金Supported by The Nationgal Natural Science Foundation of China,No.30571924
文摘AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) with the colorectal carcinoma (CRC) risk in Han Chinese. METHODS: Polymorphisms of LBP (rs1739654, rs223 2596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study. Single-nucleotide polymorphisms (SNPs) between cases and controls were analyzed by unconditional logistic regression. RESULTS: GA and GG genotypes of LBP rs2232596 were associated with a significantly increased risk ofCRC [odds ratio (OR) = 1.51, 95% confidence interval (CI) 1.15-1.99, P = 0.003; OR = 2.49, 95% CI 1.16-5.38, P = 0.016, respectively]. A similar association was also observed for the CG genotype of CD14 rs4914 (OR= 1.69, 95% CI 1.20-2.36, P = 0.002). In addition, a combination of polymorphisms in LBP rs2232596 and CD14 rs4914 led to a 3.4-fold increased risk of CRC (OR = 3.44, 95% CI 1.94-6.10, P = 0.000). CONCLUSION: This study highlights the LBP rs2232596 and CD14 rs4914 polymorphisms as biomarkers for elevated CRC susceptibility in the Chinese Han population.
基金Supported by Grants from the National Natural Science Foun dation of China,No.30860259the Youth Scientific Re search Foundation of Qinghai University,No.2008-QY-09
文摘AIM:To investigate the associations between interleukin(IL)-1B and IL-1RN polymorphisms and gastric cancers among the Tibet,Hui and Han ethnicities.METHODS:Genomic DNA was extracted from peripheral blood of 210,205,and 202 healthy volunteers and from 155,158,and 197 gastric cancer patients from the Tibet,Hui,and Han populations,respectively.Polymorphisms in IL-1B and IL-1RN were analyzed by denaturing high-performance liquid chromatography.RESULTS:Carriers of the IL-1B-31 CC genotype had an increased risk of intestinal type gastric cancer [odds ratio(OR) = 2.17,P = 0.037] in the Tibet ethnicity.Carriers of the IL-1B 2/L genotype had an increased risk of both intestinal and diffuse types of gastric cancer(OR = 2.08,2.31,P = 0.007,0.016,respectively) in the Hui ethnicity.In the Han population,carriers of the IL-1B-31 CC,IL-1B-511CT,TT genotypes had increased risk of intestinal type gastric cancer(OR = 2.51,2.74,5.66,P = 0.005,0.002,0.000,respectively).CONCLUSION:IL-1B and IL-RN genotypes may differentially contribute to gastric cancer among the Tibet,Hui,and Han ethnicities in the Qinghai area of China.
基金Supported by Clinical Subject Fund of the Ministry of Public Health of China, No. 20010102
文摘AIM: To investigate risk factors for pancreatic cancer and establish a risk model for Han population. METHODS: This population-based case-control study was carried out from January 2002 to April 2004. One hundred and nineteen pancreatic cancer patients and 238 healthy people completed the questionnaire which was used for risk factor analysis. Logistic regression analysis was used to calculate odds ratio (ORs), 95% confidence intervals (CIs) and 113 value, which were further used to establish the risk model. RESULTS: According to the study, people who have smoked more than 17 pack-years had a higher risk to develop pancreatic cancer compared to non-smokers or light smokers (not more than 17 pack-years) (OR 1.98; 95% CI 1.11-3.49, P=0.017). More importantly, heavy smokers in men had increased risk for developing pancreatic cancer (OR 2.11; 95% CI 1.18-3.78, P=0.012) than women. Heavy alcohol drinkers (〉20 cup-years) had increased risk for pancreatic cancer (OR 3.68; 95% CI 1.60-8.44). Daily diet with high meat intake was also linked to pancreatic cancer. Moreover, 18.5% of the pancreatic cancer patients had diabetes mellitus compared to the control group of 5.8% (P= 0.0003). Typical symptoms of pancreatic cancer were anorexia, upper abdominal pain, bloating, jaundice and weight loss. Each risk factor was assigned a value to represent its importance associated with pancreatic cancer. Subsequently by adding all the points together, a risk scoring model was established with a value higher than 45 as being at risk to develop pancreatic cancer.CONCLUSION: Smoking, drinking, high meat diet and diabetes are major risk factors for pancreatic cancer. A risk model for pancreatic cancer in Chinese Han population has been established with an 88.9% sensitivity and a 97.6% specificity.
基金Supported by Research Fund of the Education Department of Shaanxi Province,China,No. 09JK710
文摘AIM:To investigate the incidence of gastroesophageal reflux disease(GERD) and its related risk factors in Uygur and Han Chinese adult in Urumqi,China.METHODS:A population-based cross-sectional survey was undertaken in a total of 972 Uygur(684 male and 288 female) aged from 24 to 61 and 1023 Han Chinese(752 male and 271 female) aged from 23 to 63 years.All participants were recruited from the residents who visited hospital for health examination from November 2011 to May 2012.Each participant signed an informed consent and completed a GERD questionnaire(GerdQ) and a lifestyle-food frequency questionnaire survey.Participants whose Gerd Q score was ≥ 8 and met one of the following requirements would be enrolled into this research:(1) being diagnosed with erosive esophagitis(EE) or Barrett's esophagus(BE) by endoscopy;(2) negative manifestation under endoscopy(non-erosive reflux disease,NERD) with abnormal acid reflux revealed by 24-h esophageal pH monitoring;and(3) suffering from typical heartburn and regurgitation with positive result of proton pump inhibitor test.RESULTS:According to Gerd Q scoring criteria,340 cases of Uygur and 286 cases of Han Chinese were defined as GERD.GERD incidence in Uygur was significantly higher than in Han Chinese(35% vs 28%,χ2 = 11.09,P < 0.005),Gerd Q score in Uygur was higher than in Han Chinese(7.85 ± 3.1 vs 7.15 ± 2.9,P < 0.005),and Gerd Q total score in Uygur male was higher than in female(8.15 ± 2.8 vs 6.85 ± 2.5,P < 0.005).According to normalized methods,304(31%) cases of Uygur were diagnosed with GERD,including 89 cases of EE,185 cases of NERD and 30 cases of BE;256(25%) cases of Han Chinese were diagnosed with GERD,including 90 cases of EE,140 cases of NERD and 26 cases of BE.GERD incidence in Uygur was significantly higher than in Han Chinese(31% vs 25%,χ2 = 9.34,P < 0.005) while the incidences were higher in males of both groups than in females(26% vs 5% in Uygur,χ2 = 35.95,P < 0.005,and 19.8% vs 5.2% in Han,χ2 = 5.48,P < 0.025).GERD incidence in Uygur male was higher than in Han Chinese male(26% vs 19.8%,χ2 = 16.51,P < 0.005),and incidence of NERD in Uygur was higher than in Han Chinese(χ2 = 10.06,P < 0.005).Occupation(r = 0.623),gender(r = 0.839),smoking(r = 0.322),strong tea(r = 0.658),alcohol drinking(r = 0.696),meat-based diet(mainly meat)(r = 0.676) and body mass index(BMI)(r = 0.567) were linearly correlated with GERD in Uygur(r = 0.833,P = 0.000);while gender(r = 0.957),age(r = 0.016),occupation(r = 0.482),strong tea(r = 1.124),alcohol drinking(r = 0.558),meat diet(r = 0.591) and BMI(r = 0.246) were linearly correlated with GERD in Han Chinese(r = 0.786,P = 0.01).There was no significant difference between Gerd Q scoring and three normalized methods for the diagnosis of GERD.CONCLUSION:GERD is highly prevalent in adult in Urumqi,especially in Uygur.Male,civil servant,smoking,strong tea,alcohol drinking,meat diet and BMI are risk factors correlated to GERD.
基金grants of the National High Technology Research and Development Program,grants of the National Eleventh Five-year Plan Program from the Ministry of Science and Technology of China,Beijing Natural Science Foundation
文摘Objective To explore the association between the three polymorphisms [ C825T, C1429T and G(-350)A] of the gene encoding the G protein beta 3 subunit (GNB3) and hypertension by performing a case-control study in the northern Han Chinese population. Methods We recnaited 731 hypertensive patients and 673 control subjects (the calculated power value was 〉 0.8). Genotyping was performed to identify C825T, C1429T and G(-350)A polymorphisms using the TaqMan assay. Comparisons of allelic and genotypic frequencies between cases and controls were made by using the chi-square test. Logistic regression analyses were performed to investigate the relationships between the three polymorphisms of GNB3 gene under different genetic models (additive, dominant and recessive models). Results The genotype dis- tribution and allele frequencies of C825T, C1429T and G(-350)A polymorphisms did not differ significantly between hypertensive patients and control subjects, either when the full sample was assessed, or when the sample was stratified by gender. No significant association was observed between C825T, C 1429T and G(-350)A polymorphisms and the risk of essential hypertension in any genetic model. Linkage dis- equilibrium was only detected between C825T and C 1429T polymorphisms. Haplotype analyses observed that none of the three estimated haplotypes significantly increased the risk of hypertension. Conclusions Our study suggested that the GNB3 gene polymorphisms [C825T, C 1429T and G(-350)A] were not significantly associated with essential hypertension in northern Han Chinese population.
基金Supported by Grants from the National Natural Science Foundation of China,No.81072342the National Pre-973 Program Projects,No. 2009CB526411
文摘AIM:To investigate the association between three tag single nucleotide polymorphisms (tagSNPs) in inter-feron regulatory factors (IRF3) and the genetic suscep-tibility to chronic hepatitis B virus (HBV) infection.METHODS:We performed a case-control study of 985 Chinese cases of chronic HBV infection and 294 self-limiting HBV-infected individuals as controls.Three tagSNPs in IRF3 (rs10415576,rs2304204,rs2304206) were genotyped with the Multiplex SNaPshot technique.The genotype and allele frequencies were calculatedand analyzed.RESULTS:The three SNPs showed no significant geno-type/allele associations with chronic HBV infection.Overall allele P values were:rs10415576,P=0.0908,odds ratio (OR) [95% confidence interval (CI)]=1.1798 (0.9740-1.4291);rs2304204,P=0.5959,OR (95% CI)=1.0597 (0.8552-1.3133);rs2304206,P=0.8372,OR (95% CI)=1.0250 (0.8097-1.2976).Overall genotype P values were:rs10415576,P=0.2106;rs2304204,P=0.8458;rs2304206,P=0.8315.There were no statisti-cally significant differences between patients with chron-ic HBV infection and controls.Haplotypes generated by these three SNPs were also not significantly different between the two groups.CONCLUSION:The three tagSNPs of IRF3 are not asso-ciated with HBV infection in the Han Chinese population.
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.
基金Supported by National High Technology Research and Development Program of China (863 Program) (2006AA02A407)National Basic Research Program (973 Program) (2010CB529603)Beijing Natural Science Foundation (7102109)
文摘Objective To study the association of DTNBP1 gene with some symptom factors of schizophrenia.Methods A total of 285 unrelated schizophrenic individuals were recruited from December 2004 to January 2009 for genetic analysis,and their symptom factors were assessed based on the Positive and Negative Syndrome Scale(PANSS).The quantitative trait test was performed by the UNPHASED program(version 3.0.12) to investigate the association between scored positive and negative symptoms and the single nucleotide polymorphisms(SNPs) in DTNBP1 gene.Results The quantitative trait test showed allelic association of rs909706 with the excitement symptom of schizophrenia(P<0.05,adjusted by 10 000 permutations),while the genotype C/G of rs2619539 with a negative symptom,lack of spontaneity and flow of conversation(P<0.05,adjusted by 10 000 permutations).Conclusion DTNBP1 variations are possibly associated with some symptoms of schizophrenia,which could partly explain the relationship between the susceptibility gene DTNBP1 and that disease.
文摘Objective To investigate the association between the polymorphism of C-689T in the peroxisome proliferator-activated receptor-γ2 (PPARγ2) promoter and coronary heart disease (CHD). Methods This case-controlled study was conducted in nondiabetic Chinese Han people, which enrolled 455 patients with CHD (cases) and 693 subjects without CHD (controls). Data of clinical indexes were collected, including height, body weight, waist circumstance, systolic blood pressure (SBP), diastolic blood pressure (DBP), smoking, drinking, physical activity, as well as body mass index (BMI). Fasting blood glucose (FBG), plasma total cholesterol (TC) and triglyceride (TG) levels were measured. Polymerase chain reaction-restricted fragments length polymorphism (PCR-RFLP) was used to determine the PPARγ2 promoter C-689→T substitution. The genotype distribution of PPARγ2 promoter C-689T, allelic frequency, clinical indexes, and laboratorial measurements were compared between the two groups. The effect of genotype on the risk of CHD was assessed using univariate and multivariate regression model. Results The genotype frequencies of CC, CT and TT in PPARγ2 promoter C-689T were 89.7%, 9.9% and 0.4% in the case group, and 93.1%, 6.6% and 0.3% in the control group, respectively (CC vs. CT+TT, χ^2= 6.243, P=0.041). Carriers of -689T allele (n=95) had significantly higher TC level than non-carriers (n=1053) (5.12±1.26 vs. 4.76±1.22 mmol/L, P=0.001). Male carriers of -689T allele (n=51) were significantly higher in waist circumference, body weight, TC and TG than male non-carriers (n=656) (all P〈0.05). In subjects whose BMI was over 25 kg/m2, carriers of -689T allele (n=82) had significantly higher levels of waist circumference, BMI, SBP and TC than non-carriers (n=231) (all p〈0.05). The -689T allele was an independent risk factor for CHD (OR=1.668, 95%CI: 1.031-2.705, P=0.037) after adjusting for age, gender, waist circumference, body weight, BMI, smoking, physical activities, SBP, DBP, FBG, TC and TG level. Conclusion These data support the hypothesis that the -689T allele is associated with an increased risk of CHD, in Chinese Han people and correlates significantly with the profiles of CHD-related risk factors.
文摘Objective To investigate the relationship between pemphigus vulgaris (PV) and human leukocyte antigen (HLA) in Han nation of northeast China. Mothods Standard microcytotoxicity test and polymerase chain reaction-sequence specific primers method were used to detect the HLA class Ⅰ antigens and HLA-DRBI and DQBI alleles in 27 patients with PV and results were compared with control group. Gene and phenotype frequencies of HLA-A3, A26(10), B60(40), and B13 (27.99%, 48%; 16.11%, 30%; 23.02%, 41%; 16.11%, 30%, respectively) increased significantly in PV group compared with control (1.01%, 2%; 0.5%, 1%; 4.61%, 9%; 5,13%, 10%, respectively). After P value correction, the difference of A3, A26 (10), and B60 (40) between the two groups was still significant. The gene frequencies of HLA-DRB 1^* 140x (1401, 1404, 1405, 1407, 1408), DRBI^*I20x, and DQBI*0503 alleles in PV group (42.26%, 25.46%, and 23.02%) were significantly higher than control group (5.09%, 7.74%, and 1.89%). After P value correction, the difference was still significant between the two groups. Collusion PV significantly relates with HLA in PV patients of Han nation of northeast China.
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.
基金Supported by the National Natural Science Foundation of China (No.30393131 and No.30572087).
文摘Objective: To explore the possible mitochondrial DNA (mtDNA) polymorphism in Han Chinese. Methods: The complete mitochondrial genome of 26 unrelated healthy Han Chinese were extracted and sequenced. Results:The mtDNA nucleotide sites (2 706, 7 028, 8 860, 11 719, and 15 326) were found totally different from the Revised Cambridge Reference Sequence (rCRS). These single nucleotide polymorphisms (SNPs) were 2 706 A→G, 7 028 C→T, 8 860 A→G, 11 719 G→A, 15 326 A→G. Conclusion: These findings provide new insights into the characteristics of Han Chinese mitochondrial genetic diversity.
基金National Natural Science Foundation of China (No.30000048) National Basic Research Program of China (G1999054000)
文摘Objective: To study the sequence and function of the glial cell line-derived neurotrophic factor (GDNF) transcript in subjects of Han nationality. Methods: The Han nationality GDNF transcript was amplified by RT-PCR and expressed by baculovirus expression system. Biological activity of the expressed product was measured by the primary culture of midbrain dopaminergic neurons. Results: There only existed the shorter GDNF transcript of 555 bp in the Han nationality. The secretory expression product of the shorter transcript in insect cells promoted the survival and differentiation of dopaminergic neurons. Conclusion: It is found that there is a 78 bp deletion in the Han nationality GDNF transcript compared with the reported 633 bp GDNF transcript. The 78 bp deletion does not affect the secretory expression and biological activity of GDNF mature protein.
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Objective: To explore the relationship between the β 3-adrenergic receptor(β 3-AR)gene and obesity, T2DM, insulin resistance in Chinese Han population. Methods: Fifty-three healthy subjects, 105 subjects with simple obesity, 63 type 2 diabetic patients without obesity, and 114 type 2 diabetic patients with obesity were studied with the technique of PCR-RFLP in codon 64 of the exon region of β 3-AR gene representing the variation Trp/Arg. Results: Compared with the subjects of Trp homozygous group, the individuals with Arg allele were more elevated in WHR,MBP,SBP,DBP,FBS,PBS,FINS,PINS,FCP,PCP and lower in ISI. Frequency of Arg allele was higher in HINS subgroup without T2DM. Conclusion: The results indicate that the Trp/Arg variation might lead to insulin resistance, obesity and T2DM.β 3-AR gene is supposed to be the candidate gene of insulin resistance, obesity and T2DM in Chinese Han population.