AGTR1 A1166C gene polymorphism is associated with the effectiveness of valsartan monotherapy in Chinese patients with essential hypertension:A retrospective analysis

Objective:To investigate whether angiotensinⅡtype 1 receptor(AGTR1 A1166C)gene polymorphism was associated with the effectiveness of valsartan monotherapy in Chinese patients with essential hypertension.Methods:This retrospective analysis included 198 patients(≥18 years of age)who received valsartan monotherapy(80 mg/day)for newly developed essential hypertension at the authors’center between January 1,2020 and December 31,2023.Genotyping for AGTR1 A1166C gene polymorphism was done by polymerase chain reaction(PCR)-melting curve analysis of genomic DNA from peripheral blood samples.A dominant genetic model for AGTR1 A1166C(AA genotype versus AC+CC genotype)was used.Multivariate regression analysis of baseline variables and AGTR1 polymorphism was conducted to identify predictors of target blood pressure attainment(<140/90 mmHg)at the 4-week follow-up.Results:The median age of the 198 patients was(53.7±13.5)years,and 58%were men.Genotyping assays showed that 164 patients had the AA genotype,and 34 patients were of the AC/CC genotype,including 30 with the AC genotype and 4 with the CC genotype.Allele distribution was consistent with Hardy Weinberg equilibrium.109 Patients(55.1%)attained the blood pressure target.Multivariate analysis showed that smoking(versus no smoking,HR 0.314,95%CI 0.159-0.619,P=0.001)and AGTR1 A1166C AA genotype(versus AC/CC,HR 2.927,95%CI 1.296-6.611,P=0.023)were significant and independent predictors of target attainment.25 Patients(73.5%)with AGTR1 A1166C AC/CC genotype attained the target versus 51.2%(51/164)of patients with AGTR1 A1166C AA genotype(P=0.017).Patients with AGTR1 A1166C AC/CC genotype had a significantly greater reduction in systolic blood pressure[(33.1±10.8)mmHg versus(29.2±11.7)mmHg in AA carriers;(P=0.029)].Conclusions:Hypertensive patients carrying one or two C alleles of the AGTR1 A1166C gene were more responsive to valsartan treatment.

Association between 5-HTR1A gene C-1019G polymorphism and antidepressant response in patients with major depressive disorder:A meta-analysis

BACKGROUND Major depressive disorder(MDD)is a substantial global health concern,and its treatment is complicated by the variability in individual response to antide-pressants.AIM To consolidate research and clarify the impact of genetic variation on MDD treatment outcomes.METHODS Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines,a systematic search across PubMed,EMBASE,Web of Science,and the Cochrane Library was conducted without date restrictions,utilizing key terms related to MDD,serotonin 1A receptor polymorphism(5-HTR1A),C-1019G polymorphism,and antidepressant response.Studies meeting inclusion criteria were thoroughly screened,and quality assessed using the Newcastle-Ottawa Scale.Statistical analyses,includingχ2 and I²values,were used to evaluate heterogeneity and fixed-effect or random-effect models were applied accordingly.RESULTS The initial search yielded 1216 articles,with 11 studies meeting criteria for inclusion.Analysis of various genetic models showed no significant association between the 5-HTR1A C-1019G polymorphism and antidepressant efficacy.The heterogeneity was low to moderate,and no publication bias was detected through funnel plot symmetry and Egger's and Begg's tests.CONCLUSION This meta-analysis does not support a significant association between the 5-HTR1A C-1019G polymorphism and the efficacy of antidepressant treatment in MDD.The findings call for further research with larger cohorts to substantiate these results and enhance the understanding of antidepressant pharmacogenetics.

Correlation between MCP-1 gene-2518A/G polymorphism and diabetic retinopathy: A meta-analysis

Objective:To systematically evaluate the association between MCP-1 gene-2518 A/G polymorphism and diabetic retinopathy(DR).Methods:CNKI,WanFang Data,and PubMed databases were searched.Studies on the correlation between MCP-1 gene-2518A/G polymorphism and DR were searched from self-built databases until March 2022.Meta-analysis was performed using Revman5.3 software.Results:Seven studies were included.Meta-analysis showed that MCP-1 gene 2518A/G was not associated with the risk of DR in allelic and homozygous genetic models[G vs.A:OR=1.09,95%CI(0.77,1.54),P=0.62;GG vs.AA:OR=1.64,95%CI(0.93,2.88),P=0.09],and it was correlated with the risk of DR in heterozygous,dominant and recessive genetic models[GG vs.AG:OR=1.13,95%CI(1.01,1.26),P=0.03;AA+AG vs.GG:OR=0.85,95%CI(0.77,0.94),P=0.002;AA vs.GG+AG:[OR=0.78,95%CI(0.67,0.90),P=0.0008];According to the severity of DR,further meta-analysis of proliferative diabetic retinopathy(PDR)and nonproliferative diabetic retinopathy(NPDR)patients showed that there was no correlation between MCP-1 gene-2518A/G polymorphism and the risk of PDR in five genetic models[G vs.A:OR=1.06,95%CI(0.80,1.41),P=0.68;GG vs.AA:OR=1.12,95%CI(0.77,1.61),P=0.56;GG vs.AG:OR=0.88,95%CI(0.69,1.12),P=0.31;AA+AG vs.GG:OR=1.08,95%CI(0.86,1.36),P=0.50;AA vs.GG+AG:[OR=0.73,95%CI(0.49,1.08),P=0.12].Conclusion:MCP-1 gene 2518A/G polymorphism may be associated with the pathogenesis of DR,but it may not be involved in the progression of DR patients from NPDR to PDR.

Polymorphism of FUT1 Gene and Its Relationship with Litter Size in Northeast Hebao Pigs

[ Objective] To analyze the FUT1 gene polymorphism of Hebao pigs and its relationship with litter size and provide reference for conservation, breeding, development and utilization of Hebao pigs. [Method] The DNA was extracted from Hebao pigs＇ ears, and the polymorphism of FUT1 gene was detected by PCR-RFLP. Then the relationship between genotype and litter size was analyzed. [Result] The FUT1 gene had three kinds of genotypes, GG, AG and AA, as indicated by digestion with Hin6 I. The genotype frequency of AA was 0.115 9, and the allele frequency of A was 0.275 4. The average litter size from the 1 = parity to the 5th parity was higher in the individuals with the genotype AA than in those with the genotype AG or GG. And this difference was significant in average litter size of the 3th parity and the 4th parity （ P 〈 0.05）. [ Conclusion ] The FUT-1 gene is polymorphic in Hebao pigs, and the allele frequency is similar to that of foreign Duroc pigs but greatly different from that of other breeds such as Landrace, Large white, and Landrace x Large white pigs. The genotype AA is a prevalent genotype for litter trait.

Polymorphism Analysis of NCOA1 Gene in Pigs by PCR-RFLP

[Objective] The research aimed to study the polymorphism of NCOA1 gene in pigs by PCR-RFLP.[Method] Using 81 Landrace pigs from Liuhe pig breeding farm as research objects,the genome DNA was extracted from ear tissue of pigs by conventional Phenol-chloroform extraction method.The genomic DNA was used as template to make PCR amplification and a 440 bp target fragment was obtained.PCR amplification products were digested by restriction nuclease Rsa I.The agarose gel electrophoresis detection was made.And the gene frequency and the genotype frequency were calculated.[Result] The agarose gel electrophoresis detection showed that the enzyme digestion products had three genotypes of AA （440 bp）,AB （440 bp,282 bp,158 bp） and BB （282 bp,158 bp）：The genotype frequencies of AA,AB and BB were 0.54,0.43 and 0.03,respectively：The frequencies of allele A and B were 0.76 and 0.24,respectively.[Conclusion] In the studied pig herd,A is the dominant allele and the genotype frequency of AA is higher.

UGT1A1 gene polymorphism: Impact on toxicity and efficacy of irinotecan-based regimens in metastatic colorectal cancer

AIM: To investigate the correlation between uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) gene polymorphisms and irinotecan-associated side effects and parameters of drug efficacy in patients with metastatic colorectal cancer (mCRC) receiving a low-dose weekly irinotecan chemotherapeutic regimen. METHODS: Genotypes were retrospectively evaluated by gene scan analysis on the ABI 310 sequencer of the TATAA box in the promoter region of the UGT1A1 gene in blood samples from 105 patients who had received 1st line irinotecan-based chemotherapy for mCRC. RESULTS: The distribution of the genotypes was as follows: wild type genotype (WT) (6/6 ) 39.0%, heterozygous genotype (6/7) 49.5%, and homozygous genotype (7/7) 9.5%. The overall response rate (OR) was similar between patients carrying the (6/7, 7/7) or the WT genotype (6/6) (44.3% vs 43.2%, P = 0.75). Neither time to progression [(TTP) 8.1 vs 8.2 mo, P = 0.97] nor overall survival [(OS) 21.2 vs 18.9 mo, P = 0.73] differed significantly in patients who carried the(6/6) when compared to the (6/7, 7/7) genotype. No significant differences in toxicity were observed: Grade 3 and 4 delayed diarrhoea [(6/7, 7/7) vs (6/6); 13.0% vs 6.2%, P =0.08], treatment delays [(6/7, 7/7) vs (6/6); 25.1% vs 19.3%, P = 0.24] or dose reductions [(6/7, 7/7) vs (6/6); 21.5% vs 27.2%, P = 0.07].CONCLUSION: This analysis demonstrates the non-significant influence of the UGT1A1 gene polymorphism on efficacy and rate of irinotecan-associated toxicity in mCRC patients receiving low-dose irinotecan based chemotherapy.

Relation between K469E gene polymorphism of ICAM-1 and recurrence of ACS and cardiovascular mortality

Objective:To explore the relation between K469E gene polymorphism of intercellular adhesion molecular-1(ICAM-1) and the recurrence of ACS and cardiovascular mortality.Methods:A total of 185 patients with ACS hospitalized in Department of Cardiology in our hospital from Sep 2007 to Sep 2008 were selected as objectives.Polymerase chain reaction was used to analyze K469E gene polymorphism of ICAM-1.According to the genotypes,they were divided into two groups: group with K allele(KK+KE) and group without K allele(EE).The two groups were followed up prospectively for five years and blood lipid,blood pressure,blood glucose,recurrence and death of ACS were collected when the patients left hospital.The relation between ICAM-1 gene polymorphism and the recurrence of ACS and cardiovascular mortality was analyzed by Logistic regression.Results:After long-term follow-up,it was found that ACS recurred on 71 cases(38.4%) and 10 cases died,among which 3 cases died of cardiovascular disease.The recurrence of ACS and cardiovascular mortality in group with K allele were remarkably higher than that in group without K allele(P<0.01).After multivariate Longistic regression adjusted ages,gender, weight indexes,TC,LDL-C,TC,smoking,drinking,family history of cardiovascular disease, history of hypertension and the severity of coronary artery disease,the risks of ACS recurrence and cardiovascular mortality in group with genotype KK+KE was 3.31 and 3.53 times of those in group with genotype EE respectively(P<0.01).When the independent variable of hypertension was introduced in regression analysis,the risks of ACS recurrence and cardiovascular mortality in group with K allele both decreased(P<0.05).When the independent variable of HDL-C was introduced,different genotypes of ICAM-1 weren't relevant with ACS recurrence and cardiovascular mortality(P>0.05).Conclusions:K469E gene polymorphism of ICAM-1 was related to ACS recurrence and cardiovascular mortality,K allele probably an independent risky factor and hypertension and to which the level of HDL-C were closely related.

Transforming growth factor-β1 gene polymorphisms are associated with progression of liver fibrosis in Caucasians with chronic hepatitis C infection

AIM: Considerable attention is focused on polymorphisms in the gene encoding transforming growth factor-pi (TGF-β1), a multifunctional cytokine that is in turn a potent growth inhibitor involved in wound healing and differentiation. In humans, it promotes the pathogenesis of organ fibrosis, atherosclerosis, cancer, autoimmune and inflammatory diseases, keloid disease, and hypertrophic scarring. For this reason, much emphasis has been placed on studies elucidating the impact of TGF-β1 and its gene variations for the susceptibility and pathogenesis of these diseases. Unfortunately, some studies have serious limitations. METHODS: We have recently described a high-throughput method for investigation the Arg25Pro polymorphism of human TGF-β1 gene and showed that the frequency of the Pro25 allele is significantly associated with hepatic fibrogenesis. In this report, we describe two novel LightCyder (LC) techniques that facilitate the examination of the two other known alterations in the coding region of TGF-β1. We investigated whether these polymorphisms contribute to hepatitis-induced progression of fibrogenesis in Chinese and Caucasians. RESULTS: In the Chinese ancestry, the gene polymorphisms at codons 25 and 263 were not found and the genetic variant at codon 10 is unlikely to confer susceptibility to hepatic fibrosis. Contrarily, in Caucasians TGF-β1 allelic variations are more frequent and the presence of prolines either in codon 25 or 10 is associated with the interindividual variability in developing more severe fibrosis during chronic hepatitis C infection. CONCLUSION: In summary, these results confirm the hypothesis that TGF-β1 polymorphisms are associated with fibrosis progression in Caucasians chronically infected with hepatitis C.

Interleukin-1β gene polymorphism associated with hepatocellular carcinoma in hepatitis B virus infection

AIM： To examine the effect of interleukin-l-beta （IL-113） promoter region C-511T and IL-1 receptor antagonist （IL-1RN） polymorphism among the patients with chronic hepatitis B virus （HBV） infection （HCC and non-HCC）. METHODS： Genomic DNA from 136 Thai patients with chronic HBV infection （HCC =46 and non-HCC= 90） and 152 healthy individuals was genotyped for IL-113 gene polymorphism （-511） using polymerase chain reaction with sequence specific primers （PCR-SSP）. The variable number of tandem repeats （VNTR） of IL-1RN gene was assessed by a PCR-based assay. The association between these genes and status of the disease was evaluated by X^2 test. RESULTS： IL-1B-511 genotype c/c was found to be significantly different in patients with HCC when compared with healthy individuals （P = 0.036, OR = 2.29, 95%CI = 1.05-4.97） and patients without HCC （P=0.036, OR= 2.52, 95%CI=1.05-6.04）. Analysis of allele frequencies of IL-1B-511 showed that IL-1B-511 C allele was also significantly increased in patients with HCC, compared to that in healthy control （P=0.033, OR= 1.72, 95%CI=1.04-2.84）. However, no significant association in IL-1RN gene was found between the two groups. CONCLUSION： IL-1B-511C allele, which may be associated with high IL-1B production in the liver, is a genetic marker for the development of HCC in chronic hepatitis B patients in Thai population.

Correlation between IL-1β,IL-1Ra gene polymorphism and occurrence of polycystic ovary syndrome infertility

Objective:To explore the relationship between IL-1β.IL-1Ra gene polymorphism and the occurrence of polycystic ovary syndrome(PCOS) infertility.Methods:A total of 59 PCOS infertility cases visiling the reproductive center of our hospital from Mar.2010 to Mar.2012 and 56 healthy women were selected.ELISA method was used lor the detection of IL-1β.IL-1Ra lewis,and the levels of serum supersensitivity C reaction protein(US-CRP).insulin(FINS),follieule-stimulating hormone(FSH) and fasting blood—glucose(FRG) were detected.PCR analysis technology was adopted to detect the gene polymorphism of the.511 site of IL-1βand the second introne of IL- 1Ra.Results:The levels of IL-1β.IL-1Ra.US-CRP.FINS and FBG in blood scrum of patients in PCOS group were significantly higher than those in control group(P【0.05 or P【0.01).The level of FSH in PCOS group was significantly lower than that in control group(P【0.05).The genotypic frequency of T/T.the 511 site of IL-1βin PCOS group was 42.37%.significantly higher than 1250%in control group 【P【0.01).The frequency of T allele was also significantly higher than that in control group(P【0.01).The genotypic frequency ofⅠ/Ⅴ.the second introne of IL-1Ra in PCOS group was 20.34%,signicianlly higher than 3.57%in control group(P【0.05).The frequency of V allele in PCOS group was significantly higher than that in control group(P【0.05).Conclusions: T allele of the 511 site of IL-1βgene and V allele of the second inlrone of IL-1Ra gene might be the genetic basis of the rising of IL-1β.IL-1Ra and US-CRP levels in blood serum of PCOS patients,and are associated with the infertility occurrence of PCOS patients.

DNA repair gene XRCC1 polymorphisms and susceptibility to childhood acute lymphoblastic leukemia: a meta-analysis

Objective： To estimate the relationship between genetic polymorphisms of X-ray repair cross- complementing group 1 （XRCC1） and the susceptibility to childhood acute lymphoblastic leukemia （ALL）. Methods： Relevant case-control studies were enrolled in the meta-analysis. We applied Rev Man 4.2 software to pool raw data and test studies＇ heterogeneity and to calculate the incorporated odds ratio （OR） and 95% confidence interval （95% CI）. Results： Our data showed that the OR for the Gln allele of the Arg399Gln polymorphism, compared with the Arg allele, was 1.35 （95% CI, 1.16-1.57; P〈0.0001） for childhood ALL patients. Similarly, the homozygous genotype Gln/Gln and heterozygous genotype Arg/Gln both significantly increased the risk of childhood ALL compared with the wild genotype Arg/Arg （OR =1.58; 95% CI, 1.13-2.21; P=0.008; OR =1.51; 95% CI, 1.21-1.87; P=0.0002）. The dominant model of Arg399Gln was associated with childhood ALL risk （OR =1.54; 95% CI, 1.25-1.89; P〈0.0001）. The ethnic subgroup analysis demonstrated that the Gln allele in all five ethnic groups was prone to be a risk factor for childhood ALL just with different degrees of correlation while Arg194Trp SNP showed a protective or risk factor or irrelevant thing in different races. Conclusions： XRCC1 399 polymorphism may increase the risk of childhood ALL. Different ethnic groups with some gene polymorphism have different disease risks.

XRCC1 genetic polymorphism Arg399Gln and gastric cancer risk:A meta-analysis

AIM： To evaluate the association between X-ray crosscomplementing gene 1 （XRCCl） genetic polymorphism Arg399Gln and gastric cancer risk by means of metaanalysis. METHODS： We searched PubMed and NCBI up to June 1, 2008. A total of 16 clinical trials and reports were identified, but only 8 trials qualified under our selection criteria. Statistical analysis was performed with the software program Review Manage, version 4.2.8. RESULTS： Of the 8 case-control studies selected for this meta-analysis, a total of 1334 gastric cancer cases and 2194 controls were included. For Arg399GIn, the Gin/Gin genotype carriers did not have a decreased cancer risk compared with those individuals with the Arg/Arg genotype （OR = 0.92, 95% CI, 0.71-1.19; P = 0.51）. Similarly, no associations were found in the recessive and dominant modeling （Gin/Gin vs Arg/GIn ＋ Arg/Arg： OR = 0.96; 95% CI, 0.77-1.19; P = 0.70 and Gin/Gin ＋ Arg/GIn vs Arg/Arg： OR = 0.90, 95% CI, 0.77-1.05; P = 0.18）. CONCLUSION： No association is found between the XRCC1 polymorphism Arg399GIn and gastric cancer risk.

EFFECTS OF VITAMIN D RECEPTOR GENE POLYMORPHISMS ON SUSCEPTIBILITY TO TYPE 1 DIABETES MELLITUS

Objective To investigate the influence of vitamin D receptor （VDR） gene polymorphisms on susceptibility to type 1 diabetes mellitus （T1DM） in the Chinese Han population. Method One hundred and thirty-six Chinese Han people, including 54 T1DM patients and 82 unrelated healthy subjects as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism for three restriction sites in the VDR gene, which were ApaI, TaqI, and BamL Results The frequency of B allele of BsmI site in VDR gene was significantly higher in T1DM patients than in healthy subjects （ P = 0. 033 ） while no difference was found between the two groups in the distribution of ApaI and TaqI polymorphisms. Conclusion The BsmI polymorphism of VDR gene may be associated with the susceptibihty to T1DM in the Chinese Han population of Beijing.

Correlation between single nucleotide polymorphism of rs3811047 in IL-1 F7 gene and rheumatoid arthritis susceptibility among Han population in central plains of China

Objective:To discuss the association between single nucleotide polymorphism(SNP) of rs3811047 in IL-1 F7 gene and rheumatoid arthritis(RA) susceptibility among the Han population in central plains of China.Methods:A total of 276 RA patients admitted to our hospital from December 2009 to December 2011 together with 276 healthy physical examinees in the same period were chosen as the subjects.The typing for rs3811047 SNP in IL-1 F7 gene was carried out by using ligase detection reaction and polymerase chain reaction technique.And the frequency of each allele and genotypes distribution was calculated so as to evaluate the association between genotype distribution and RA susceptibility.Results:The frequency of A allele of rs3811047 in IL-1 F7 gene in RA group and control group was 16.27%and 17.68%,respectively,and that of G allele in two groups was 83.73%and 82.32%,respectively.The difference between two groups wasn’t statistical significant(P 】0.05).The frequency of genotype AA,AG and GG in RA group was 2.19%,27.84%and 69.97%,respectively,while that in control group was 2.94%,29.78%and 67.28%, respectively.The difference of distribution of three genotypes was not statistically significant (P 】0.05).RA patients with A allele were better than those without A allele in joint swelling index, rest pain,HAQ scoring and blood sedimentation.There was significant difference between two groups in above indexes(P【0.05/P【0.01).Conclusions:No significant correlation between RA susceptibility among the Han population in central plains of China and rs3811047 SNP inIL-1 F7 gene is observed.However,A allele of rs3811047 has certain influence on the condition of RA patients.

Association of single nucleotide polymorphisms of brain-derived neurotrophic factor gene and multidrug resistance 1 gene to refractory epilepsy in Chinese Han children

BACKGROUND： There are two hypotheses for the underlying cause of refractory epilepsy： ＂target＂ and ＂transport＂. Studies have shown that brain-derived neurotrophic factor （BDNF） is over-expressed in refractory epilepsy. Multidrug resistance 1 （MDR1） gene encodes for P-glycoprotein, the primary ATP-binding cassette transporter in the human body. Some single nucleotide polymorphisms of the MDR1 gene have been associated with refractory epilepsy. OBJECTIVE： To investigate the association between BDNF gene C270T polymorphism and MDR1 T-129C polymorphism with refractory epilepsy in Chinese Han children through the use of polymerase chain reaction （PCR）-restriction fragment length polymorphism analysis. DESIGN, TIME AND SETTING： A case-control, genetic association study was performed at the Central Laboratory, Third Xiangya Hospital of Central South University from June 2005 to November 2007. PARTICIPANTS： A total of 84 cases of unrelated children with epilepsy, including 41 cases of refractory epilepsy and 43 cases of drug-responsive epilepsy, were enrolled. An additional 30 healthy, Chinese Han children, whose ages and gender matched the refractory epilepsy patients, were selected as normal controls. METHODS： Venous blood was collected and genomic DNA was extracted from the blood specimens. C270T polymorphism in BDNF gene and T-129C polymorphism in MDR1 gene were genotyped using PCR-restriction fragment length polymorphism analysis. Association analysis using the Ftest and Chi-square test was statistically performed between C270T polymorphism in BDNF gene and T-129C polymorphism in MDR1 gene and refractory epilepsy. MAIN OUTCOME MEASURES： The distribution of genotypes and allele frequencies of C270T polymorphism in BDNF gene and T-129C polymorphism in MDR1 gene. RESULTS： The distribution of CC, CT, and TT genotypes, as well as C and T allele frequencies, in the BDNF gene was not significantly different between the refractory epilepsy group, drug-responsive epilepsy group, or the normal control group （P 〉 0.05）. The distribution of TT genotype and T allele frequencies of the MDR1 gene was significantly different in the refractory epilepsy group compared with the drug-responsive epilepsy and normal control groups （P 〈 0.05）. Comparison of haplotype combinations demonstrated that there were no significant differences in combinations of TT＋CC, -FI-＋CT, TC＋CC, and TC＋CT among the three groups （P 〉 0.05）. CONCLUSION： C270T polymorphism of the BDNF gene was not associated with refractory epilepsy in Chinese Han children, but T-129C polymorphism in the MDR1 gene was associated with refractory epilepsy in Chinese Han children. The TT genotype and T allele frequencies could serve as susceptibility loci for refractory epilepsy. Interactions between C270T in BDNF gene and T-129C in MDR1 gene were not observed in refractory epilepsy in Chinese Han children.

DNA Polymorphisms of 5′-Flanking Region of Insulin-Like Growth Factor 1 Gene and Their Association with Reproduction Traits in Goats

Research on the identity of genes and their relationship with traits of economic importance in farm animals could assist in the selection of livestock. In this study, the polymorphisms of insulin-like growth factor 1 （IGF1） gene in 561 goats of ten breeds were detected by polymerase chain reaction （PCR）-single strand conformation polymorphism （SSCP） and their association with litter size and birth weight in three breeds were investigated. The effects of IGF1 polymorphisms on the breeding value for litter size and birth weight were examined using least square methods. Two deletions （CA） were detected in the microsatellite and two mutations （A1637G, T1640C） were found in 5′-flanking regulatory region. No significant association between the polymorphisms in 5′-flanking region of IGF1 and birth weight was found in the three breeds of goats. In Gulin Ma goats, two polymorphisms were found to affect litter size traits. In Chuandong White goats and Guizhou White goats, no significant difference （P0.05） in litter size between goats carrying different genotypes was observed. Further evaluation and confirmation studies in more goat populations with larger sample sizes are necessary.

Cytochrome P450 2E1 genetic polymorphism and gastric cancer in Changle,Fujian Province

AIM: Genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic activation of procarcinogens such as N-nitrosoamines and low molecular weight organic compounds. The purpose of this study is to determine whether CYP450 2E1 polymorphisms are associated with risks of gastric cancer. METHODS: We conducted a population based case-control study in Changle county, Fujian Province, a high-risk region of gastric cancer in China. Ninety-one incident gastric cancer patients and ninety-four healthy controls were included in our study. Datas including demographic characteristics, diet intake, and alcohol and tobacco consumption of individuals in our study were completed by a standardized questionnaire.PCR-RFLP revealed three genotypes:heterozygote (C1/C2) and two homozygotes (C1/C1 and C2/C2) in CYP2E1. RESULTS: The frequency of variant genotypes (C1/C2 and C2/C2) in gastric cancer cases and controls was 36.3% and 24.5%, respectively. The rare homozygous C2/C2 genotype was found in 6 individuals in gastric cancer group(6.6%), whereas there was only one in the control group (1.1%). However, there was no statistically significant difference between the two groups (two-tailed Fisher's exact test P=0.066). Individuals in gastric cancer group were more likely to carry genotype C1/C2 (odds ratio, OR=1.50) and C2/C2 (OR=7.34) than individuals in control group (chi(2) =4.597, for trend P=0.032). The frequencies of genotypes with the C2 allele (C1/C2 and C2/C2 genotypes) were compared with those of genotypes without C2 allele (C1/C1 genotype) among individuals in gastric cancer group and control group according to the pattern of gastric cancer risk factors. The results show that individuals who exposed to these gastric cancer risk factors and carry the C2 allele seemed to have a higher risk of developing gastric cancer. CONCLUSION: Polymorphism of CYP2E1 gene may have some effect in the development of gastric cancer in Changle county, Fujian Province.

Difference in DRB1~* gene polymorphisms between Han and Uyghur ulcerative colitis patients in China

AIM:To evaluate the association between HLA-DRB1 alleles and Han and Uyghur ulcerative colitis (UC) patients residing in the Xinjiang Uyghur Autonomous Region of China. METHODS:In this study, 102 UC patients (53 Han including 22 men and 31 women, and 49 Uyghur patients including 25 men and 24 women; aged 48.07 ± 15.83 years) and 310 age- and sex-matched healthy controls were enrolled in the Department of Gastroenterology, Xinjiang People's Hospital of China from January 2010 to May 2011. UC was diagnosed based on the clinical, endoscopic and histological findings following Lennard-Jones criteria. Blood samples were collected and genomic DNA was extracted by routine laboratory methods, and both polymerase chain reaction and gene sequencing were used to identify HLA-DRB1 allele variants. The potential association between genetic varia-tion and UC in Han and Uyghur patients was examined. There were no statistical differences in HLA-DRB1 allele frequencies in Han UC patients. RESULTS:There was no significant difference in the sex ratio between the controls and UC patients (P = 0.740). In Han patients with UC (n = 53), HLA-DRB1 *03 , *13 allele frequencies were lower than in healthy controls (n = 161), but not statistically significant, and HLA-DRB1*04*11*14 allele frequencies were higher than in healthy controls, but without statistical significance. Differences between Uyghur UC patients and the control group were observed for HLA-DRB1*04 and HLA-DRB1*13 , both showed a greater frequency in UC patients (10.21% vs 2.69%, P = 0.043; 14.29% vs 4.03%, P = 0.019). HLA-DRB1*14 also showed a greater frequency in UC patients (14.29% vs 2.69%, P = 0.006). The frequencies of DRB1*04 , *13*14 alleles were increased in Uyghur UC patients compared with normal controls. The frequency of DRB1 * 08 was decreased in Uyghur UC patients compared with normal controls. HLA-DRB1 alleles showed no association with UC in Han patients. There were no statistical differences in HLA-DRB1 allele frequencies in Han UC patients. The frequencies of DRB1*04 , *13*14 alleles were increased in Uyghur UC patients compared with normal controls. The frequency of DRB1*08 was decreased in Uyghur UC patients compared with normal controls. Polymorphism of the HLA-DRB1 gene may contribute to the clinical heterogeneity of UC between Han and Uyghur UC patients in China. CONCLUSION:HLA-DRB1*04*13*14 and DRB1*08 may contribute to the clinical heterogeneity of UC between Han and Uyghur UC patients.

Relationship between catecholamine level and gene polymorphism of β1 adrenergic receptor G1165C in children with EV71 infection in hand foot and mouth disease

Objective:To investigate the relationship between the levels of plasma adrenaline and norepinephrine and gene polymorphism of β1 adrenergic receptor G1165 C in children with enterovirus 71(EV71) infection in hand foot and mouth disease(HFMD). Methods:The polymerase chain reaction(PCR) was used to detect the expression of gene polymorphism of β1 adrenergic receptor G1165 C in vitro. The levels of plasma adrenaline and norepinephrine were measured by enzyme-linked immunosorbent assay(ELISA). Results:The plasma norepinephrine level of severe group was significantly higher than the mild group in children with EV71 infection in HFMD(P<0.05); however,the levels of plasma adrenalinein in two groups had no statistical differences(P>0.05); There was no significant difference in the distribution of β1 adrenergic receptor G1165 C genotype and allele between EV71 infection group and healthy control group(P> 0.05). Further analysis of EV71 infection group by dividing it into mild and severe groups showed that there was no significant difference in the distribution of genotype and allele between these two groups as well(P> 0.05). There was no significant difference in the levels of epinephrine and norepinephrine in different genotypes of EV71 infection group(P> 0.05),and in the levels of plasma epinephrine and norepinephrine in the mild and severe groups(P> 0.05). Conclusions:As the disease gets worse,the plasma norepinephrine level has a rising trend in children with EV71 infection in HFMD,which is an important indicator to evaluate the progress of the disease. However,the gene polymorphism of eptor G1165 C have no significant correlation,not only with the susceptibility and severit β1 adrenergic recy of EV71 infection in hand,foot and mouth disease,but also with the levels of catecholamine.

Correlation between polymorphisms in the MFN1 gene and myopia in Chinese population

AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopia patients (-0.75 D <= spherical refraction <= -8.00 D) and 100 sex -matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy -Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.