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.

胃癌患者间隙性连接蛋白37基因C1019T多态性与幽门螺杆菌感染的相关性

目的研究胃癌患者间隙性连接蛋白（Connexin）37基因C1019T多态性与幽门螺杆菌（Hp）感染的相关性。方法选取胃癌患者388例（胃癌组）及慢性浅表性胃炎患者204例（对照组）。胃黏膜活检组织切片染色法检测Hp感染情况，基因测序技术检测Connexin37基因C1019T多态性。比较基因型及等位基因分布频率。结果（1）Connexin37基因共有CC型、TC型、TT型3种基因型，在两组中的分布均符合Hardy—Weinberg遗传平衡规律。（2）胃癌组C等位基因分布频率显著高于对照组（P〈0．01）。与TT纯合子相比，CC＋TC基因型胃癌患病风险显著增加（OR=2．47、95％CI=1．68～361，P〈0．01）。（3）分层分析提示Hp阳性是男性患者发生胃癌的一个危险因素，且男性Hp阳性者发生胃癌风险明显高于女性。剔除性别影响后，Hp阳性与胃癌密切相关（OR=8．82、95％CI=5．45～14．28，P〈0．01）。（4）胃癌组中Hp感染者C等位基因分布频率显著高于非感染者（P〈0．01）。与TT纯合子相比，CC＋TC基因型胃癌患病风险显著增加（OR=2．96、95％CI=1．76～2．99，P〈0．01）。结论胃癌患者Connexin37基因T等位基因与胃癌的发生有关，且与Hp感染相关。

间隙性连接蛋白37基因1019C/T多态性与原发性高血压的关系

目的 研究无锡地区人群中间隙性连接蛋白37 （connexin 37,CX 37）基因1019C/T多态性与原发性高血压的相关性.方法 入选在无锡市人民医院初次诊断为原发性高血压的患者1 126例,874名健康体检者作为正常对照组,均采用基因测序技术对CX37基因1019多态性位点基因型进行检测,比较两组人群中基因型及等位基因分布差异.结果 （1）两组人群中均存在CX 37基因1019C/T多态性,基因型分布均符合Hardy-Weinberg遗传平衡定律.（2）原发性高血压组与正常对照组相比,C等位基因分布频率升高（57.37％vs.42.05％,P＜0.01）.C等位基因携带者（CC＋TC）在原发性高血压组高于对照组,差异有统计学意义（80.46％ vs.66.70％,P＜0.01）.与Tr纯合子相比,（CC＋TC）基因型原发性高血压患病风险增加（OR=2.06,95％ CI：1.68～2.52）.对性别进行亚组分析显示：无论男性还是女性人群中原发性高血压组C等位基因携带者频率均显著高于正常对照组（男性：79.19％vs.69.05％,P＜0.01;女性：81.75％ vs.64.40％,P＜0.01）,C等位基因携带者原发性高血压患病风险明显高于TT型（男性：OR=1.71,95％CI：1.28～2.27;女性：OR=2.48,95％ CI：1.85～3.31）.结论 CX37 C等位基因可能与老年原发性高血压相关.

间隙性连接蛋白37 C1019T基因多态性与冠心病相关性研究进展

冠状动脉粥样硬化性心脏病是严重危害人类健康的常见疾病,是一种多因素、多基因疾病。遗传流行病学研究显示遗传因素在冠状动脉粥样硬化性心脏病的发生、发展中有重要意义。近年来随着分子生物学技术的迅速发展,从基因方面阐明冠状动脉粥样硬化性心脏病的发生将为冠状动脉粥样硬化性心脏病的诊治开辟一个新领域。在此对其中的一种候选基因即间隙性连接蛋白37C1019T基因多态性与冠状动脉粥样硬化性心脏病的相关性研究进行综述。

CX37基因1019C/T多态性与腰椎间盘突出症及临床分型的关系

目的探讨间隙性连接蛋白37基因1019C/T多态性位点与腰椎间盘突出症及临床分型的关系。方法采用基因测序技术,检测腰椎间盘突出症组191例(根据影像学表现分为A组:膨出型64例,B组:突出型98例,C组:脱出型29例)和健康对照组187例CX37基因1019C/T多态性分布。结果腰椎间盘突出症组和对照组均存在CX37基因1019C/T多态性,2组均以C等位基因为主。突出型组、脱出型组的CC基因型和C等位基因(CC+CT)分布频率明显高于对照组(P<0.05)。在性别亚分组分析比较中,男性人群的CC基因型和C等位基因频率在突出型组和脱出型组中明显高于对照组,而女性在3组中均未发现上述明显差异。另外在膨出型组和对照组基因型、等位基因频率分析比较中未发现差异有统计学意义。结论 CX37等位基因可能与腰椎间盘突出症相关。

过氧化氢酶基因389C>T多态位点在重庆汉族人群中的分布及其与噪音性耳聋的关联研究

目的探讨过氧化氢酶(catalase,CAT)基因外显子区第9外显子的同义突变位点389C>T(rs769217)多态性在重庆汉族人群中的分布及其与噪音性耳聋的关联研究。方法以中国重庆地区汉族无血缘关系的健康志愿者225例,噪声接触者427例作为研究对象。噪音接触者根据接触噪声后是否出现噪音性听力丧失(noise-induced hearing loss,NIHL)又分为非耳聋组,即NIHL(-)组(n=303)和耳聋组,即NIHL(+)组(n=124)。采用上海天昊公司的专利技术iMLDRTM分型技术,分别检测各组CAT基因389 C>T多态位点的基因型,并比较组间基因型、等位基因频率分布及临床变量间的差异。结果在研究人群中检测到CAT基因389C>T多态位点的3种基因型CC、CT和TT,2组人群的T等位基因频率均为0.46,C等位基因频率为0.54,健康对照组和噪音接触组基因型频率分布符合Hardy-Weinberg遗传平衡定律(P>0.05)。健康对照组与噪音接触组、健康对照组与NIHL(-)组间CAT基因389C>T多态位点的3种基因型(CC、CT和TT)和等位基因(C、T)频率分布均无显性差异(P>0.05);但健康对照组与NIHL(+)组及NIHL(-)组与NIHL(+)组间3种基因型(CC、CT和TT)和等位基因(C、T)频率分布均有显著性差异(P<0.05),且显性模型分析中即TT+CC vs CC均有显著性差异(P<0.05)。结论 389C>T位点(rs769217)与重庆汉族人群中NIHL遗传易感性有关联,在重庆汉族人群中可作为噪音性耳聋易感性的生物标志。

Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T各复合基因型与尘螨变应性鼻炎的研究

目的Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T各复合基因型与尘螨变应性鼻炎的关系。方法运用PCR-RFLP、PCR-ARMS检测88例尘螨变应性鼻炎及102例正常人Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T基因多态性。结果尘螨变应性鼻炎组Tim-3-1541CC/-882CC/-574G,-1541CC/-882CC/-574GT+TT,-1541CC/-882TC+TT/-574GG,-1541CT+TT/-882CC/-574GG及其他复合基因分别为:0.8409、0.1136、0.027、0.027和0,对照组分别为,0.7941、0.0784、0.0196、0.0868和0。结论广东汉族人群Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T各复合基因型与尘螨变应性鼻炎无相关联。