Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia

Aim： To analyze the distribution of the single nucleotide polymorphism （SNP） C677T in the methylenetetrahydrofolate reductase （MTHFR） gene in 355 infertile Chinese patients with idiopathic azoospermia or severe oligozoospermia and 252 fertile Chinese men as controls to explore the possible association of the SNP and male infertility. Methods： Using the polymerase chain reaction （PCR）-restriction fragment length polymorphism technique, the allele and genotype distribution of SNP C677T in the MTHFR gene were investigated in both patients and controls. Results： The frequencies of allele T （40.9% vs 30.4%, P = 0.002, odds ration [OR] = 1.58, 95% confidence interval [CI]： 1.24-2.02） and mutant homozygote （TT） （18.3% vs. 11.5%, P = 0.023, OR = 1.72, 95% CI： 1.07-2.76） as well as carrier with allele （TT ＋ CT） （63.4% vs. 49.2%, P = 0.0005, OR = 1.79, 95% CI： 1.29-2.48） in infertile patients were significantly higher than those in controls. After patient stratification, the significant differences in distribution of the SNP between each patient subgroup and control group still remained. Conclusion： Our findings indicate that there is an association of SNP C677T in the MTHFR gene with male infertility, suggesting that this polymorphism might be a genetic risk factor for male infertility in Chinese men.

Interaction of methylenetetrahydrofolate reductase C677T,cytochrome P4502E1 polymorphism and environment factors in esophageal cancer in Kazakh population

AIM： To evaluate the association and interaction of genetic polymorphisms in methylenetetrahydrofolate reductase （MTHER） and cytochrome P4502E1 （CY- P4502E1）, environment risk factors with esophageal cancer （EC） in Kazakh, a high EC incidence area of Xinjiang Uygur Autonomous Region, China. METHODS： A 1：2 matched case-control study was conducted with 120 cases of EC and 240 populationor hospital-based controls. The controls were matched for sex, nationality, area of residence and age within a 5-year difference. MTHER and CYP4502E1 genotypes were identified by PCR-based restriction fragment length polymorphism （RFLP）. A conditional logistic regression model was established to identify risk factors. The strata method was adopted in interaction analysis. RESULTS： Low consumption of green vegetables and fresh fruits, alcohol drinking, and unsafe water （shallow well, or river） were found to be the risk factors for EC. Individuals with the MTHFR677 （C/T ＋ T/T） genotype had a 2.62-fold （95% CI： 1.61-4.28） risk of developing EC compared with those who carried the C/C genotype. Individuals with the CYP4502EIC1/C1 genotype had a 3.00-fold （95% CI： 1.82-4.96） risk compared with those who carried the CYP4502E1 （C1/C2 ＋ C2/C2） genotype. Gene-environment interaction analysis showed that MTHFR677 gene polymorphism was correlated with consumption of green vegetables and fresh fruit, while CYP4502E1 C1/C1 was correlated with alcohol drinking and unsafe drinking water. MTHFR and CYP4502E1 analysis of gene-gene interaction showed that individuals with the MTHFR677 （C/T ＋ T/T） and CYP4502EIC1/ C1 genotypes had a 7.41-fold （95% CI： 3.60-15.25） risk of developing EC compared with those who carried the MTHFR677C/C and CYP4502E1 RsaI C1/C2 ＋ C2/C2 genes, and the interaction rate was higher than that of the two factors alone. CONCLUSION： Low consumption of green vegetables and fresh fruits, alcohol drinking, and unsafe water （shallow well, or river） and polymorphisms in MTHFR and CYP4502E1 genes are important risk factors for EC. There is a synergistic interaction among polymorphisms in MTHFR and CYP4502E1 genes and environment factors. MTHFR and CYP4502E1 genes can be used as biomarkers for prevention of EC in Kazakh, Xinjiang Uygur Autonomous Region, China.

Relationship between granulomatous lobular mastitis and methylene tetrahydrofolate reductase gene polymorphism

BACKGROUND Variations in the methylene tetrahydrofolate reductase(MTHFR)gene have been reported as risk factors for numerous conditions,including cardiovascular disease,thrombophilia,stroke,hypertension and pregnancy-related complications.Moreover,it was reported there is an association between breast cancer and mutations in MTHFR-C677T.However,whether there is an association between MTHFR gene polymorphism and granulomatous lobular mastitis or not has been rarely investigated.AIM To analyze the association between MTHFR gene polymorphism and granulomatous lobular mastitis.METHODS Fifty-one patients with granulomatous lobular mastitis admitted to The First Hospital of Kunming were selected as study samples.Their hospitalization time ranged from February 2018 to February 2019.The 51 patients were included in the experimental group,and another 51 women who underwent physical examination at The First Hospital of Kunming in the same period were included in the control group.Deoxyribonucleic acid and MTFR genetic polymorphism testing were performed in each group.The association between MTHFR gene polymorphism and granulomatous lobular mastitis was observed.RESULTS There were significant differences in genotype frequency and allele frequency of C/C and C/T between the experimental group and the control group(all P<0.05).However,there was no significant difference in frequency of T/T genotype between the two groups(P>0.05).In addition,there was no significant difference in genotype frequency and allele frequency of A/A,A/C and C/C between the two groups(P>0.05).CONCLUSION MTHFR gene C677T locus polymorphism is closely related to granulomatous lobular mastitis.

Serum Folate, MTHFR C677T Polymorphism and Esophageal Squamous Cell Carcinoma Risk

This study examined associations between MTHFR C677T polymorphism and serum folate concentrations with the risk of esophageal precancerous lesions （EPL） and esophageal squamous cell carcinoma （ESCC）. The highest quartile of serum folate concentration significantly decreased the risk of ESCC compared with the lowest quartile （0R=0.11; 95% CI, 0.04-0.33; P〈0.05）. MTHFR 677 C〉T polymorphism was associated with the risk of ESCC by using chi-square tests （P〈0.05）. For the CT genotype, the risk of ESCC significantly increased in study participants with low serum folate concentrations （〈26.92μg/L） compared with participants with high serum folate concentrations （〉26.92 μg/L） by using multinomial logistic regression models. The MTHFR genotype may further modify associations between serum folate concentrations and the risk of ESCC, but it was not significantly associated with the risk of EPL.

Methylenetrahydrofolate Reductase Gene C677T Polymorphism and Diabetic Retinopathy: a Meta-Analysis

Objective To investigate the association between the methylenetetrahydrofolate reductase gene C677T(MTHFR C677T)polymorphism and diabetic retinopathy(DR).Methods A total of 6971 subjects including 2707 DR patients and 4264 controls from 23 studies were enrolled in the study.A random-effects model was applied to estimate the overall effects and the stratified effects of the MTHFR C677T polymorphism on the risk of DR,and study quality was also assessed.Results Strong associations were observed between the MTHFR C677T polymorphism and DR.The carries of MTHFR C677T were more likely to be found in the DR group in relative to the healthy control group with odds ratio 1.6&2.55,and 2.31 respectively in allele contrast model(T vs.C,95%CZ:1.29-2.18,P<0.001,f=7&4%),homozygous model(TT vs.CC,95%CZ:1.70-3.83,P=0.008,72=54.4%)and dominant model(TT+CT vs.CC,95%CZ:1.62-3.29,P<0.001,12=74.7%).This association can also be found in contrast to the Ned(non-complicated diabetic mellitus)group(allele contrast,OR—1.50,95%Ch 1.07-2.11,P=0.032,I2=62.1%;homozygous,OR—2.39,9S%CZ:1.06-5.38,P=0.017,Z2=66.7%;dominant,OR=1.59,95%CZ:0.97-2.62,P=0.056,I2=56.5%).For the heterozygous model(CT vs.CC),the association was significant in contrast to the healthy control group(OR=1.46,95%CZ:1.64-3.69,P=0,P=77.3%),while in contrast to the Ned control group the association was not statistically meaningful(OR=1.38,95%CZ:0.87-2.18,P=0.131,Z2=43.7%).For the recessive model,1.92-fold increased risk was found only in contrast to the Ned control group(95%C1:1.07-3.43,P=0.064,P=55.0%).There was no significant association found in the models in contrast to the DM control group.Conclusion In this meta-analysis,we found an association between the MTHFR C677T polymorphism and DR,especially in contrast to the Ned control group.Further studies are required to establish more definite relationship.

Associations of IFN-γ rs2430561 T/A,IL28B rs12979860 C/T and ERα rs2077647 T/C polymorphisms with outcomes of hepatitis B virus infection:a meta-analysis

Several studies investigated associations of IFN-γ rs2430561 T/A,IL28 B rs12979860 C/T and ERα rs2077647 T/C gene polymorphisms with outcomes of hepatitis B virus（HBV） infection,but the results were controversial.Therefore,we performed a meta-analysis of all published observational studies to address this inconsistency.Literature was searched in online database and a systematic review was conducted based on the search results.A total of 24 studies were included and dichotomous data were presented as odds ratio（OR） with a 95%confidence interval（CI）.The rs2430561 T allele was associated with reduced persistent HBV infection risk（T vs.A：OR,0.690;95%CI,[0.490,0.971]）,while the rs2077647 T allele significantly increased the risk of persistent HBV infection（T vs.C：OR.1.678;95%CI,[1.212,2.3231）.Rs 2077647 CC might play a role in protecting individuals against HBV persistence（TT vs.CC：OR,4.109;95%CI,[2.609,6.473]）.Furthermore,carriers of the rs2430561 TT genotype were more likely to clear HBV spontaneously compared with those of the AA genotype（TT vs.AA：OR,0.555;95%CI,[0.359,0.856]）.For rs12979860 C/T polymorphism,no significant correlation with HBV infection outcomes was found.In subgroup analyses,the results were similar to those of overall analysis.However,for rs2077647 TT vs.TC＋CC,significantly increased risks were observed in the Asian and hospital-based population,but not in the overall analysis.IFN-γrs2430561 T/A and ERα rs2077647 T/C genetic polymorphisms were associated with outcomes of HBV infection,but no association was found between IL28 B rs12979860 C/T and HBV infection.

Association of promoter polymorphism of the CD14 C (-159) T endotoxin receptor gene with chronic hepatitis B

AIM: To investigate whether single-nucleotide polymor- phisms in the promoter regions of endotoxin-responsive genes CD14 C (-159) T is associated with chronic hepatitis B. METHODS: We obtained genomic DNA from 80 patients with established diagnosis of chronic hepatitis B and 126 healthy subjects served as a control population. The CD 14 C (-159) T polymorphism was investigated using an allele specific PCR method. RESULTS: Twenty seven percent of chronic hepatitis B patients and 75% of controls were heterozygous for CT genotype. The difference between the chronic hepatitis B and control groups was statistically significant [P < 0.0001; Odds ratio (OR) = 2.887; 95% CI: 1.609-5.178]. Twenty four point six percent of chronic hepatitis B and patients 12.3% of the control group were heterozygous for TT genotype. The difference between groups was not statistically significant (P = 0.256; OR = 0.658; 95% CI: 0.319-1.358). Forty eight point four percent of chronic hepatitis B patients and 12.7% of control were homozy- gote for CC genotype (P < 0.004; OR = 0.416; 95% CI: 0.229-0.755). The frequency of allele C was 61.9% and allele T was 38.1% in hepatitis B patients group. The frequency of allele C was 55.2% and allele T was 44.8% for the control group (P = 0.179; OR = 1.319; 95% CI: 0.881-1.977). CONCLUSION: The TT heterozygous genotype was not a risk factor for chronic hepatitis B. CC homozygote genotype is protective for hepatitis B. Lack of heterozy- gosis of genotype CT is a risk factor for chronic hepatitis B. Alleles C or T were not risk factors for chronic hepatitis B. These findings show the role of a single-nucleotide polymorphism at CD14/-159 on the development ofchronic hepatitis B. Endotoxin susceptibility may play a role in the pathogenesis of chronic hepatitis B.

Total plasma homocysteine and methylenetetrahydrofolate reductase C677T polymorphism in patients with colorectal carcinoma

AIM: To investigate the behaviour of total plasma homocysteine (tHcy) and its most common genetic determinant defect, the methylenetetrahydrofolate reductase C677T (C677TMTHFR) polymorphism in patients with early stage colorectal carcinoma. METHODS: tHcy was quantified by Abbott IMx immunoassay; screening for C677TMTHFR substitution was performed by PCR and restriction analysis. RESULTS: The frequency of the C/T and T/T genotypes of the C677TMTHFR gene polymorphism did not differ between the groups. The mean tHcy was statistically higher in cancer patients than in control subjects carrying the same C/C or C/T genotype, whereas there was no difference in the T/T homozygous carriers of the two groups. tHcy was significantly higher in the T/T homozygous carriers than in C/C and C/T genotype carriers. CONCLUSION: The statistically significant increase of tHcy observed in C/C and C/T genotype carriers among our cancer patients is related to substrate consumption dependent on the tumor cell proliferation rate, whereas the tHcy increase observed in T/T genotype carriers of both groups probably depends on the enzymatic deficit of the homocysteine conversion to methionine and/or on the folate deficiency.

Association of hypoxia-inducible factor-1α (HIF1α) 1772C/T genepolymorphism with susceptibility to renal cell carcinoma/prostatecancer

In this study,we used a meta-analysis method to evaluate the relationship between hypoxia-inducible factor-1α(HIF1α)1772C/T gene polymorphism(rs 11549465)and renal cell carcinoma(RCC)/prostate cancer risk.We searched for relevant studies(before March 1,2019)on Cochrane Library,Embase,and PubMed.Studies meeting the inclusion criteria were recruited into this meta-analysis.The outcome of dichotomous data was showed in the way of odds ratios(OR),and 95%confidence intervals(CI)were also counted.In this investigation,there was no association between HIF1α1772C/T gene polymorphism and susceptibility to RCC in Caucasians,Asians as well as overall populations.In addition,HIF1α1772C/T gene polymorphism was not found to be relevant to the survival in RCC.Interestingly,the T allele was relevant to prostate cancer risk in all populations,but not in Caucasians and Asians.However,the TT genotype and the CC genotype were not related to prostate cancer susceptibility in Asian,Caucasian,and all populations.In conclusion,the T allele of the HIF1α1772C/T gene polymorphism was related to prostate cancer risk in the overall populations.

p73 G4C14 to A4T14 polymorphism is associated with colorectal cancer risk and survival

AIM:To analyze the association between the p73 G4C14-to-A4T14 polymorphism(a.k.a.,the GC/AT variation) and colorectal cancer risk and survival in the Korean population,and to evaluate the relationships between p73 polymorphism and the p73 protein expression or clinicopathological characteristics of colorectal cancer.METHODS:Three hundred and eighty-three histologically confirmed cases and 469 healthy controls,recruited at one teaching hospital in Pusan,Korea from 2001 and 2007,were genotyped for p73 G4C14-to-A4T14 by PCR with confronting two-pair primers(PCR-CTPP) and the expression profile of p73 in cancer tissues(n=383) was analyzed by immunohistochemistry.RESULTS:Odds ratios(ORs) and 95% confidence intervals(CIs) were calculated by unconditional logistic regression model adjusted for age and gender.Compared with the GC/GC genotypes,the GC/AT and AT/AT genotypes were significantly associated with colorectal cancer risk(GC/AT vs GC/GC:OR = 1.46,95% CI:1.10-1.94;AT/AT vs GC/GC:1.72,0.98-3.03;Ptrend=0.01).When stratified by age and gender,the association was restricted to those less than 60 years of age(GC/AT or AT/AT vs GC/GC:2.22,1.39-3.55) and male(GC/AT or AT/AT vs GC/GC:1.91,1.31-2.77).The expression of p73 was associated with invasion depth(P = 0.003) and advanced Duke's stage(P = 0.06) of colorectal cancer.The patients with the GC/GC genotype were associated with worse survival compared with those with the other genotypes(P = 0.02).However,no signif icant relationship was observed between the p73 G4C14-to-A4T14 polymorphism and p73 protein expression in cancer tissues.CONCLUSION:Our results suggest that the p73 GC/AT polymorphism is associated with an increased colorectal cancer risk and survival in the Korean population.

Association of methylenetetrahydrofolate reductase C677T polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677Tpolymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol(LDL-C), apolipoprotein(Apo) AI and ApoB were lower in Bai Ku Yao than in Han(P【0.05-0.001).The frequency of C and T alleles was 77.4%and 22.6%in Bai Ku Yao,and 60.9%and 39.1%in Han(P【0.001);respectively.The frequency of CC,CT and TT genotypes was 58.7%,37.3%and 4.0%in Bai Ku Yao,and 32.6%,56.4%and 11.0%in Han(P【 0.001);respectively.The levels of TC and LDL-C in both ethnic groups were significant differences among the three genotypes(P【0.05-0.01).The T allele carriers had higher serum TC and LDL-C levels than the T allele noncarriers. The levels of ApoB in Han were significant differences among the three genotypes(P【0.05).The T allele carriers had higher serum ApoB levels as compared with the T allele noncarriers. The levels of TC,TG and LDL-C in Bai Ku Yao were correlated with genotypes(P【0.05-0.001),whereas the levels of LDL-C in Han were associated with genotypes(P【 0.001).Serum lipid parameters were also correlated with sex, age,body massindex,alcohol consumption,cigarette smoking, and blood pressure in the both ethnic groups.Conclusions The differences in serum TC,TG,LDL-C and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of the MTHFR C677Tor differentMTHFR gene-enviromental interactions.

Endothelial Nitric Oxyde Synthase Gene Polymorphisms in a Tunisian Deep Vein Thrombosis Group

Deep vein thrombosis (DVT) is a multi-factorial disease involving both genetic and acquired risk factors. The objective of this study was to determine the frequencies of endothelial nitric oxide synthase (eNOS) gene polymorphisms G894T (rs1799983) and T-786C (rs2070744) to assess the role of these polymorphisms as a potential risk factor in the development of DVT. Methods: In this case-control study, we included 32 patients with deep vein thrombosis (DVT) and 31 healthy control subjects. Clinical characteristics were collected. Lipids plasma concentrations were determined by the colorimetric method. Genotyping for the polymorphisms was performed by restriction fragment length polymorphism (PCR-RFLP) method. Results: We had found that the eNos G894T genotype G/T was significantly increasing the risk of DTV (P = 0.042, OR = 3.9;95% CI = 1.09 to 13.92). But no association of the eNOS T-786C variant and DVT was found. For the eNOs T-786C polymorphism, the frequency of the T/T genotype was 87.5% in patients (with an allelic frequency of T Allele equal to 91%). No significant difference was noted between the two groups (P > 0.05). Conclusion: The eNOs G894T polymorphism seems to be in association with DVT and may be considered as a risk factor, but this is not the case for the T-786C polymorphism.

The C161T Polymorphism in Peroxisome Proliferator-Activated Receptor ɣ2, but Not Pro12Ala, Is Associated with Diabetic Retinopathy in Type 2 Diabetes Mellitus in an Egyptian Population

Objectives: Diabetic retinopathy (DR) is one of the most common microvascular complications of type 2 diabetes mellitus (T2DM). It is multifactorial with the contribution of multiple genetic factors. We questioned the association of polymorphisms in the peroxisome proliferator-activated receptor ?2 (PPAR?2) gene (Pro12Ala and C161T) with DR in an Egyptian population. Methods: This case control study included one hundred healthy individuals and 252 T2DM among them 122 with DR and 130 without DR. Genotyping was done by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Results: The Pro12Ala Ala allele was associated with decreased risk of DR with an odds ratio (OR) of 0.484, 95% confidence interval (CI) (0.254 - 0.920), and a p value = 0.024. The C161T T allele was associated with increased risk of DR with OR = 2.593, 95% CI (1.672 - 4.020), p < 0.001. However, when considering other covariates such as glycosylated hemoglobin (HbA1c) in multivariate regression analysis only C161T was associated with increased risk of DR with OR = 3.479, 95% CI (1.907 - 6.346), p < 0.001, while the significant association with Pro12Ala was lost. HbA1c was higher in Pro/Pro genotype when compared to those with Ala/Ala and Pro/Ala genotypes. Conclusion: We report that T allele of C161T increased risk of DR in the studied population. Further studies are warranted to investigate functional implications of polymorphisms of the PPAR-? gene in DR development.

Effect of ABCB1 C3435T Polymorphism on Clinical Outcomes in Kenyan HIV Patients on Lopinavir-Based Regimens

ATP Binding Cassette sub-family B member 1 （ABCB1） affects disposition of many drugs and thus affects the pharmacokinetics of drugs and ultimately treatment response. Polymorphisms of ABCB 1 especially ABCB 1 C3435T polymorphism may thus affect pharmacokinetics of antiretroviral drugs and hence CD4 treatment response and other clinical outcomes of HIV patients. Methods： The study design was a historical cohort study and entailed collection of patient data. PureLink genomic DNA extraction mini kit was used for the extraction and purification of genomic DNA. TaqMan drug genotyping assay and protocol was used in the DNA amplification and genotyping. Data analysis was done using STATA software version 10. Results： Study participants with the CT genotype had lower creatinine levels after 6 months on lopinavir-based regimens compared with those with the CC genotype （p = 0.001）. In addition, the study participants with the CT genotype had consistently higher CD4 cell counts compared with those with the CC genotype from the time of ART switch but this was not statistically significant. However, there was no significant association between the ABCB 1 C3435T genotypes and haemoglobin and ALT levels. Conclusion： There was a significant association between ABCB1 C3435T polymorphism and creatinine levels 6 months after therapy on lopinavir-based regimens.

中国东北高血压病高发地区人群中G蛋白β_3亚单位825C/T多态分析

应用聚合酶链式反应和限制性片段长度多态技术 (PCR RFLP)检测高血压高发地区人群中 133例高血压病人和 2 5 7例正常人以及一般人群中 98例高血压病人和 110例正常人的GNB382 5C/T等位基因频率和基因型频率 ,同时测定相关的生化指标 ;并进行病历 对照统计学分析。发现GNB3基因虽然不是我国东北高血压人群的主要易感基因 。

原发性高血压患者G蛋白β_3亚单位基因C825T多态性的研究

目的 :研究中国大陆高血压人群中G蛋白 β3 亚单位 (GNB3)基因C82 5T多态性的分布及与血浆肾素 血管紧张素系统 (RAS)活性的关系。方法 :确诊原发性高血压的患者 4 0 8例作为试验组 ,14 0例健康成年人作为正常对照组 ,6 1例有高血压家族史的健康成年人作为高血压家族史阳性正常对照组。C/T多态性测定采用PCR -RFLP方法。结果 :各组GNB382 5T等位基因频率为 4 5 .6 %～ 5 6 .4 % ,各基因型在原发性高血压患者与正常人间分布差异无显著性。TT型高血压患者有较高的醛固酮水平和较低的血浆血管紧张素转换酶活性。结论 :G蛋白β3 亚单位 82 5TT基因型的中国大陆人群原发性高血压患者有较高的醛固酮水平和较低的血浆血管紧张素转换酶活性。

G蛋白β3亚单位基因C825T多态性对氨氯地平降压效果的影响

目的探讨G蛋白β3亚单位基因C825T多态性与氨氯地平降压疗效的关系。方法采用多聚酶链式反应结合限制性内切酶片段长度多态分析方法,检测147例健康人和321例原发性高血压患者的G蛋白β3亚单位C825T多态性,其中48例高血压患者口服氨氯地平4周。结果1)高血压组G蛋白β3亚单位C825T多态性中基因型频率(CC 28.7%、CT52.0%、TT 19.3%)、等位基因频率(C 54.7%、T 45.3%)与正常对照组基因型频率(CC 27.2%、CT 46.9%、TT 25.9%)、等位基因频率(C 50.7%、T 49.3%)比较差异无统计学意义;2)CC基因型的收缩压降低值〔(4.93±2.26)kPa(37.00±16.97)mmHg〕明显高于CT+TT基因型〔(2.99±1.41)kPa(22.40±10.60)mmHg〕(P<0.05)。结论G蛋白β3亚单位基因C825T多态性与氨氯地平的降压疗效相关,而与原发性高血压无关。

G蛋白β3亚单位C825T等位基因多态性与原发性高血压的关系

目的探讨温州地区汉族人群G蛋白β3亚单位(GNB3)C825T等位基因多态性与原发性高血压的相关性。方法原发性高血压患者109例,正常对照组378例,聚合酶链反应(PCR)/酶解-琼脂糖凝胶电泳检测基因型。结果(1)温州地区汉族人群GNB3825T等位基因频率为43.5%,与其他人种的该基因频率显著不同。(2)原发性高血压组的TT基因型携带率明显升高(P<0.01),TT基因型携带者与CT型携带者比较,其致高血压的比数比(OR值)为2.5(P<0.01);TT型与CC型比,其OR值为2.4(P<0.01);等位基因T与C比较,致高血压的OR值为1.5(P<0.05)。(3)GNB3不同基因型间的血压水平比较,收缩压CT和TT携带者与CC携带者比较均增高(P<0.05和P<0.01),TT携带者与CT携带者比较亦有升高(P<0.01),舒张压TT携带者比CC携带者增高(P<0.05),而CT携带者与CC携带者比较差异无显著性(P>0.05),TT携带者与CT携带者比较,收缩压和舒张压均增高(P<0.01和P<0.05)。结论GNB3825T基因型可作为早期预测原发性高血压的遗传学指标之一。

Gβ3基因C825T多态性与抗抑郁药的临床疗效

目的 :研究中国南京地区人群中Gβ3基因C82 5T多态性与抗抑郁药的临床疗效是否存在相关性。 方法 :采用聚合酶链式反应 限制性片段长度多态性分析 (PCR RFLP)技术对 15 4例抑郁症患者和 10 0例健康志愿者进行基因型分析 ;用HAMD评定抗抑郁药的疗效。结果 :抑郁症患者Gβ3基因型频率 (CC 2 2 7% ,CT 3 1 8% ,TT 4 4 8% )、等位基因频率 (C 3 8 6% ,T61 4 % ) ;与正常对照组基因型频率 (CC 2 7 0 % ,CT 5 1 0 % ,TT 2 2 0 % )、等位基因频率 (C 5 2 5 % ,T 4 7 5 % )比较具有显著性差异 (P <0 0 0 1,P <0 0 5 ) ;14 0例抗抑郁药显效者Gβ3基因型频率 (CC 2 0 7% ,CT 3 1 4 % ,TT 4 7 9% )、等位基因频率 (C 3 6 4 % ,T63 6% )和 14例药物无效者基因型频率 (CC 4 2 9% ,CT 3 5 7% ,TT 2 1 4 % )、等位基因频率 (C 60 7% ,T 3 9 3 % )比较有显著性差异 (P <0 0 0 1,P <0 0 0 1) ;不同基因型抑郁症患者经 4wkSSRI ,SNRI类抗抑郁药治疗后 ,HAMD总分均显著下降 ,减分率有显著差异 (CC与CT比较 ,P >0 0 5 ;CC与TT比较 ,P <0 0 1;CT与TT比较P <0 0 5 )。结论 :在中国南京地区人群中Gβ3基因C82

G蛋白β3亚基基因C825T多态性与抑郁症及SSRI和SNRI类抗抑郁药疗效关系的探讨

目的:研究G蛋白β3亚基基因C825T多态性与抑郁症及治疗是否存在相关性。方法:采用聚合酶链式反应-限制性片段长度多态性分析（PCR-RFLP）技术对140例抑郁症患者和100例健康志愿者进行基因型分析;用HAMD评定抑郁症的疗效。结果:抑郁症Gβ3基因基因型频率（CC20.7％,CT31.4％,TT47.9％）、等位基因频率（C3.64％,T63.6％）;与正常对照组基因频率（CC27.0％,CT51.0％,TT22.0％）、等位基因频率（C52.5％,T47.5％）比较具有显著性差异;不同基因型抑郁症患者经4周SSRI、SNRI类抗抑郁药治疗后,HAMD总分均显著下降,减分率有显著差异。结论:本研究提示在中国人群中G蛋白β3亚基基因C825T多态性与抑郁症及抗抑郁药疗效有关。