CYP2J2基因和EPHX2基因多态性与肺癌易感性研究

目的探讨CYP2J2基因启动子区G-50T多态性和EPHX2基因G860A多态性与肺癌发生的关系。方法经病理检查确诊为肺癌患者150例（肺癌组）,300名本院健康体检者作为对照组,检测其CYP2J2基因启动子区G-50T多态性和EPHX2基因G860A多态性,并进行统计学分析。结果肺癌组和对照组比较,CYP2J2启动子区G-50T多态性差异无统计学意义,而肺癌组患者EPHX2 860G等位基因频率显著高于对照组人群（96％比78．3％,P〈0．01）,多元回归分析方法显示,肺癌的发生与EPHX2 G860A多态性显著相关（校正OR值=0．164,95％CI 0．079～0．342,P〈0．001）。结论EPHX2 G860A多态件与肺痛密切相关．可作为肺癌高毹患者的预涮指标．     

细胞色素CYP2A6基因多态性与COPD易感性的关系

目的探讨细胞色素CYP2A6基因多态性与COPD易感性的关系。方法应用聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)检测40例COPD患者及37例健康体检者静脉血细胞色素P450 2A6位点等位基因和基因型。结果 1.COPD患者CYP2A6-163C>A位点基因缺失型(del)和野生型(wt)基因型频率为17.5%、82.5%,健康对照组分别为40.5%、59.5%,两组基因分布频率差异有统计学意义(χ2=5.000,P=0.025),携带CYP2A6wt基因型者较携带CYP2A6del基因型者患COPD风险增加(OR=0.31,95%CI=0.109-0.886,P<0.05)。2.在吸烟者中,携带CYP2A6wt基因型者较携带CYP2A6del基因型者患COPD风险增加(OR=0.24,95%CI=0.064-0.920,P<0.05),在不吸烟者中,携带CYP2A6wt、CYP2A6del基因型者之间患COPD风险无明显差异。结论 1.CYP2A6-163C>A基因多态性可能是COPD发病的危险因素。2.野生型(wt)可能为吸烟者患COPD的一个易感因素。     

CYP2C19 G636A基因多态性与中国汉族人群缺血性卒中的相关性:病例对照研究

目的 探讨细胞色素P450(cytochrome P450,CYP)2C19基因常见多态性位点G636A多态性分布与中国汉族人群缺血性卒中的相关性.方法 提取154例缺血性卒中患者和193例对照者外周血DNA,采用聚合酶链反应-限制性片段长度多态性方法对CYP2C19 G636A进行基因型检测,抽样测序验证基因分型结果的正确性.对缺血性卒中患者和对照者基因型和等位基因分布进行比较.结果 两组基因型均以GG为主,缺血性卒中组AA(2.6％对0.5％,P=0.001)和AG(29.2％对14.5％,P=0.001)基因型以及A等位基因(17.2％对7.8％,P=0.000)频率均显著高于对照组.复发性卒中组AA(5.7％对1.0％,P =0.018)和AG(39.6％对23.8％,P=0.018)基因型以及A等位基因(25.5％对12.9％,P=0.005)频率均显著高于首次发病组.多变量logistic回归分析显示,AA基因型是缺血性卒中的独立危险因素(优势比14.279,95％可信区间1.053 ～ 193.698;P=0.046)),但与缺血性卒中复发风险无关.结论 CYP2C19基因636AA基因型和A等位基因可能与中国汉族人群缺血性卒中风险增高有关,但与缺血性卒中复发无关.     

白三烯通路相关基因多态性与缺血性脑卒中易感性相关性研究

目的探讨白三烯通路相关基因多态性与缺血性脑卒中易感性的关系。方法收集2009年1月至2011年1月在南京医科大学第一附属医院住院的缺血性脑卒中患者690例,同时选取同期入院非脑卒中人群690例为对照组,采用PCR-RFLP方法对所有研究对象进行ALOX5 rs2029253 A/G、LTA4H rs6538697 T/C和LTC4S rs730012A/C位点基因型检测,采用Logistic回归分析各位点多态性与缺血性脑卒中发病风险的独立相关性。结果rs730012 C等位基因携带者缺血性脑卒中易感性增高1.37倍(OR=1.37,95%CI 1.08～1.73,P=0.009)。rs2029253 GG基因型降低缺血性脑卒中发病风险(OR=0.72,95%CI 0.55～0.93,P=0.013),rs6538697 CC基因型增加缺血性脑卒中发病风险(OR=1.77,95%CI 1.09～2.89,P=0.022),在调整混杂因素后rs730012多态性与缺血性脑卒中易感性不相关(P>0.05)。结论白三烯通路相关基因多态性可影响缺血性脑卒中的发病风险,具有独立遗传效应。     

金属硫蛋白2A基因-838G/C多态性与冠心病的关联研究

目的:研究中国江苏汉族人群金属硫蛋白2A(Metallothionein 2A, MT2A)基因-838G/C多态性与冠心病的关联性.方法:采用单荧光标记探针技术,检测287例冠心病患者和226例健康对照者的MT2A基因-838G/C多态性.结果:MT2A基因-838G/C多态性基因型和等位基因频率分布在冠心病组和对照组比较差异有统计学意义(P＜0.05).冠心病组MT2A -838C等位基因频率明显高于对照组(31.4%:24.6%,P=0.016),C等位基因携带者(GC+CC基因型)患冠心病的风险是GG基因型的1.562倍(OR=1.562,95%CI:1.099～2.218,P=0.013),Logistic回归分析显示,携带C等位基因是冠心病的独立危险因素(P＜0.05).冠心病组C等位基因携带者的冠状动脉Gensini积分明显高于非C等位基因携带者(P＜0.05).结论:MT2A基因-838G/C多态性与中国江苏汉族人群冠心病的发生有关联,C等位基因可能是冠心病发病的遗传易感基因,并影响冠状动脉病变的严重程度.     

COX-2基因多态性与结直肠癌发病风险的关系研究

目的 探讨环氧合酶-2(COX-2)-765G＞C、-1195G＞A、8473T＞C基因多态性与结直肠癌(CRC)遗传易感性的关系,同时评估COX-2基因多态性与某些因素共同作用对CRC发病风险的影响.方法 采用病例对照研究方法,入选CRC患者130例及健康非肿瘤人群120例.PCR-RFLP方法检测病例组和对照组COX-2基因的3个多态基因型,结果采用非条件logistic回归分析,用比值比(OR)及95％可信区间(CI)评估研究因素对疾病危险度的作用.结果 病例组COX-2-765G＞C、-1195G＞A、8473T＞C基因型频率与对照组间的差异均无统计学意义.根据体重指数(BMI)将研究对象分层后,发现-765GG基因型与CRC发病风险的相关性具有统计学意义,与正常BMI(＜23)相比,携带-765GG基因型且超重或肥胖者(BMI≥23)患CRC风险增高(OR=2.024,95％CI:1.089～3.760,P=0.024).此外,还发现吸烟可增加患CRC的风险,与不吸烟人群相比,吸烟人群中的8473TT基因型携带者患CRC的风险明显增高(OR=1.938,95％CI:1.021～3.677,P=0.042).结论 虽然COX-2 765G＞C、-1195G＞A、8473T＞C基因多态性与CRC遗传易感性之间没有相关性,但是携带-765GG基因型的高BMI人群或携带8473TT基因型的吸烟人群的CRC发生风险显著增高.对COX-2基因多态性位点的检测将有助于预防CRC的发生.     

转化生长因子-β1及肿瘤坏死因子相关凋亡诱导配体基因多态性与结节性甲状腺疾病相关性研究

目的 探讨转化生长因子(TGF)-β1 +869T/C和肿瘤坏死因子相关凋亡诱导配体(TRAIL)+1525 G/A的基因多态性在结节性甲状腺疾病患者中的分布及其相关性.方法 选择2007年9月至2009年9月于内蒙古科技大学包头医学院第一附属医院内分泌科确诊的结节性甲状腺疾病患者544例作为研究对象,其中包括136例结节性甲状腺肿患者(结甲组),132例甲状腺瘤患者(腺瘤组),146例Graves病患者(GD组),130例桥本甲状腺炎患者(HT组),同时另选择135例健康体检者作为对照组.所有对象清晨空腹采2ml静脉血,采用聚合酶链式反应-单链构象多态分析(PCR-SSCP)、聚合酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)技术检测TGF-β1+869 T/C和TRAIL+ 1525A/G基因多态性.结果 ①TGF-β1+869T/C:结甲组的CC基因型[47.0％ (64/136)]、C等位基因频率[63.2％(172/272)]均高于对照组[16.3％(22/135)、45.2％(122/270)],组间比较差异有统计学意义(x2=30.76、17.79,P均＜0.05).腺瘤组CC基因型[42.4％(56/132)]、C等位基因频率[59.1％(156/264)]均高于对照组,组间比较差异有统计学意义(x2=24.40、10.34,P均＜0.05).携带C等位基因的人群患结节性甲状腺肿的风险是携带T等位基因的2.086倍[比值比(OR)=2.086;95％可信区间(CI):1.480～2.943];携带C等位基因的人群患腺瘤的风险是携带T等位基因的1.752倍(OR=1.752;95％CI:1.244～2.469).②TRAIL+1525G/A:结甲组GG基因型[40.4％(55/136)]、G等位基因频率[62.9％(171/272)]均高于对照组[11.9％(16/135)、48.5％(131/270)],组间比较差异有统计学意义(x2=9.176、11.307,P均＜0.05).腺瘤组GG基因型[53.0％(70/132)]及等位基因频率[73.1％(193/264)]均高于对照组,组间比较差异有统计学意义(x2=9.806、33.82,P均＜0.05).携带G等位基因的人群患结节性甲状腺肿的风险是携带A等位基因的1.796倍(OR=1.796,95％CI:1.275～ 2.531);携带G等位基因的人群患腺瘤的风险是携带A等位基因的2.884倍(OR=2.884,95％CI:2.009 ～ 4.142).结论 TGF-β1+869T/C、TRAIL+1525G/A多态性可能与结节性甲状腺疾病的发病有关,TGF-β1的C等位基因和TRAIL的G等位基因可能是结节甲状腺疾病的易感基因.     

髓过氧化物酶基因多态性与原发性高血压遗传易感性的研究

目的:研究髓过氧化物酶(MPO)基因多态性与原发性高血压(EH)之间的遗传易感性.方法:采用分子流行病学方法,应用聚和酶链反应检测法107例EH和97例健康对照MPO基因型,比较不同基因型之间的分布频率及95%可信区间(CI),分析MPO基因多态性与EH易感性的关系.结果:正常人群GG、GA、AA基因型频率分别为56 7%、40 2%和3 1%,EH组分别为70 1%、29 0%和0 9%.携带GG者患EH的风险是基因型为至少一个等位基因A者的1 79倍 (95%CI 1 005~3 186).结论:本研究人群MPO基因多态与EH遗传易感性相关,等位基因A对EH易感性有保护作用.     

慢性阻塞性肺病TNFA和LTA基因等位基因变异分析

目的中国北方汉族人群中研究TNF超家族基因等位基因变异是否与慢性阻塞性肺病(COPD)相关联.方法 以50例COPD患者为研究对象,应用聚合酶链反应-限制性片段长度多态性方法研究TNF超家族基因(TNFA和LTA)等位基因变异分布.结果 TNFA基因多态性位点-308G/A COPD组和对照组比较AA基因型频率分布差异显著(χ2=7.111,P＜0.01),OR值为10.756(95%CI为9.875～12.640).-308G/A多态性位点A等位基因频率差异显著(χ2=8.219,P＜0.01);LTA基因 252A/G多态性位点AG基因型频率分布COPD组与对照组比较差异显著(χ2=11.974,P＜0.01),OR值为4.373(95%CI为3.301～6.872).LTA基因 252 A/G多态性位点G等位基因频率差异不显著.在COPD患者组中TNFA基因GG正常基因型和LTA基因AG杂合基因型结合个体频率比对照组显著增高(χ2=4.10,P＜0.05).结论 中国北方汉族人群LTA基因等位基因变异、TNFA基因多态性变异组合与COPD相关联.     

hTERT rs2736098、rs2075786及rs2736100位点多态性与中国人群肝癌易感性的meta分析

目的研究端粒酶逆转录基因多态性与中国人群肝癌易感性的关系。方法计算机检索中国知网(CNKI)、万方、pubmed、Web of science、EMBASE等数据库有关端粒酶逆转录基因多态性与中国人群肝癌易感性相关性的研究,按照标准纳入文献,提取数据,采用RevMan5.3和stata15.1软件进行meta分析。结果共纳入7篇文献,累计病例数2 564例,对照组2 770例。meta结果显示,rs2736098位点上,携带至少一个等位基因A的个体肝癌发病风险是携带GG基因型个体的1.28倍[OR=1.28,95%CI(1.01,1.62)];携带GA或AA基因型的个体罹患肝癌的风险是携带GG基因型个体的1.25倍[OR=1.25,95%CI(1.01,1.54)]。rs2075786位点上,携带等位基因T罹患肝癌的风险是携带等位基因C个体的1.92倍[OR=1.92,95%CI(1.52,2.43)]。结论 hTERT rs2736098位点,rs2075786位点多态性与中国人群肝癌易感性有关,rs2736100位点多态性并不能增加罹患肝癌的风险。     

CYP1A1, CYP2E1 and EPHX1 polymorphisms in sporadic colorectal neoplasms

AIM To investigate the contribution of polymorphisms in the CYP1A1, CYP2E1 and EPHX1 genes on sporadic colorectal cancer(SCRC) risk. METHODS Six hundred forty-one individuals(227 patients with SCRC and 400 controls) were enrolled in the study. The variables analyzed were age, gender, tobacco and alcohol consumption, and clinical and histopathological tumor parameters. The CYP1A1 *2A, CYP1A1 *2C CYP2E1 *5B and CYP2E1 *6 polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). The EPHX1 Tyr113 His, EPHX1 His139 Arg and CYP1A1 *2C polymorphisms were detected by real-time PCR. Chisquared test and binary logistic regression were used in the statistical analysis. Haplotype analysis was conducted using the Haploview program, version 2.05.RESULTS Age over 6 2 years was a risk factor for SCRC development(OR = 7.54, 95%CI: 4.94-11.50, P 0.01). Male individuals were less susceptible to SCRC(OR = 0.55, 95%CI: 0.35-0.85, P 0.01). The CYP2E1*5B polymorphism was associated with SCRC in the codominant(heterozygous genotype: OR = 2.66, 95%CI: 1.64-4.32, P 0.01), dominant(OR = 2.82, 95%CI: 1.74-4.55, P 0.01), overdominant(OR = 2.58, 95%CI: 1.59-4.19, P 0.01), and log-additive models(OR = 2.84, 95%CI: 1.78-4.52, P 0.01). The CYP2E1*6 polymorphism was associated with an increased SCRC risk in codominant(heterozygous genotype: OR = 2.81, 95%CI: 1.84-4.28, P 0.01; homozygous polymorphic : OR = 7. 3 2, 9 5 % C I : 1.85-28.96, P 0.01), dominant(OR = 2.97, 95%CI: 1.97-4.50, P 0.01), recessive(OR = 5.26, 95%CI: 1.35-20.50, P = 0.016), overdominant(OR = 2.64, 95%CI: 1.74-4.01, P 0.01), and log-additive models(OR = 2.78, 95%CI: 1.91-4.06, P 0.01). The haplotype formed by the minor alleles of the CYP2E1*5B(C) and CYP2E1*6(A) polymorphisms was associated with SCRC(P = 0.002). However, the CYP1A1 *2A, CYP1A1 *2C, EPHX1 Tyr113 His and EPHX1 His139 Arg polymorphisms were not associated with SCRC.CONCLUSION In conclusion, the results demonstrated that CYP2E1*5B and CYP2E1*6 minor alleles play a role in the development of SCRC.     

微小RNA-146a C＞G多态性与缺血性卒中风险:汇总分析

目的 探讨微小RNA-146a(microRNA-146a,miR-146a)C＞G多态性与缺血性卒中的关联性.方法 全面检索2016年2月以前发表的miR-146a C＞G多态性与缺血性卒中关系的病例对照研究,应用Stata 12.0软件包进行汇总分析,利用优势比(odds ratio,OR)和95％可信区间(confidence interval,CI)评价miR-146a C＞G多态性与缺血性卒中风险的关联强度.结果 共纳入8篇文献,病例组2 891例,对照组4 019例,入选文献无明显发表偏倚.在总体人群中,显性模型(GG+ CG对CC:OR 1.011,95％ CI0.863～1.185;P=0.889)、隐性模型(GG对CG+ CC:OR 0.999,95％ CI0.761 ～1.311;P=0.994)、杂合子模型(CG对CC:OR1.052,95％CI0.943～ 1.173;P=0.368)、纯合子模型(GG对CC:OR1.114,95％ CI0.819 ～ 1.515;P=0.491)和等位基因模型(G/C:OR1.062,95％ CI0.919～1.227;P=0.413)均未显示miR-146a C＞G多态性与缺血性卒中风险存在显著相关性.亚组分析显示,miR-146a C＞G多态性与大动脉粥样硬化性和小动脉闭塞性卒中的发病风险亦无显著相关性.结论 根据目前的文献,miR-146a C＞G多态性可能与缺血性卒中风险无显著关联性.     

MMP-2C735T、MMP-9C1562T基因多态性与缺血性卒中患者的卒中及其亚型大动脉粥样硬化性卒中有关，但与转归无关

目的 探讨基质金属蛋白酶（matrix metallop roteinase,MMP）-2C735T和MMP-9C1562T基因多态性与缺血性卒中患者的TOAST分型和转归的关系。方法232例缺血性卒中患者根据TOAST标准分被为大动脉粥样硬化性卒中（large arery atherosclerosis,LAA）(n...     

Beta2-adrenergic receptor gene polymorphisms and risk of ischemic stroke

BACKGROUND: Beta2-adrenergic receptors (beta2-AR) mediate vasorelaxation in response to adrenergic agents. Genetic polymorphisms of beta2-AR were implicated in various cardiovascular and noncardiovascular traits. METHODS: We tested the role of the beta2AR-16 and beta2AR-27 gene variants in the susceptibility to the development of ischemic stroke in a genetically homogenous and clinically well-characterized case-control sample that included 294 cases and 286 controls from Sardinia, Italy. This population was shown to be an optimal study sample for carrying out genetic analyses. RESULTS: Age, hypertension, dyslipidemia, and atrial fibrillation were independent risk factors for stroke in this cohort. We found that the presence of the Glu27 allelic variant was associated with a significantly increased risk of stroke when assuming a recessive mode of inheritance (odds ratio [OR], 1.68; 95% confidence interval [CI], 1.17-2.41; P = .005). The same results were obtained for the subgroup of ischemic strokes of arterial origin (n = 215): OR, 1.71; 95% CI, 1.14-2.57; P = .009. Furthermore, haplotype analysis confirmed that the presence of the Glu27 allele increased the risk of cerebrovascular accidents. CONCLUSIONS: Our data suggest that the Glu27 allelic variant of the beta2-AR gene may be a determinant of ischemic stroke.     

亚甲基四氢叶酸还原酶基因rs4846049 G/T多态性与中国汉族人群缺血性卒中的相关性

目的：探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolatereductase, MTHFR)基因3'-非翻译区rs4846049 G/T多态性与中国汉族人群缺血性卒中发病风险的相关性。方法采用病例对照研究设计,选取396例缺血性卒中患者和378名健康体检者(对照组),病例组大动脉粥样硬化和小动脉闭塞型分别为268例和128例。采用聚合酶链反应-限制性片段长度多态性和直接测序法检测MTHFR 基因rs4846049 G/T多态性。结果以GG基因型为参照,TT基因型使缺血性卒中发病风险显著增高[优势比(odds ratio, OR)2．87,95%可信区间(confidence interval, CI)1．43~5．76;P=0．003];与G 等位基因比较,T 等位基因使发病风险显著增高( OR 1．62,95% CI 1．28~2．06;P<0．001)。亚组分析显示, rs4846049 G/T 多态性可显著增高 LAA 和 SAO 亚型卒中的发病风险(P均<0．05)。结论 MTHFR基因rs4846049 G/T多态性可能与中国汉族人群缺血性卒中易感性增高有关,T等位基因可能是中国汉族人群缺血性卒中的遗传危险因素。     

Role of CYP2D6, CYP1A1, CYP2E1, GSTT1, and GSTM1 genes in the susceptibility to acute leukemias

Acute leukemias (ALs) are heterogeneous diseases. Functional polymorphisms in the genes encoding detoxification enzymes cause inter-individual differences, which contribute to leukemia susceptibility. The CYP2D6, CYP1A1, CYP2E1, GSTT1, and GSTM1 polymorphisms in ALL (n = 156) and AML (n = 94) patients and 140 healthy controls were genotyped by PCR and/or PCR-RFLP using blood or bone marrow samples. No association was observed between the GSTT1 gene deletion and patients (OR = 0.8, 95% CI = 0.4-1.7 for AMLs and OR = 0.9, 95% CI = 0.5-1.6 for ALLs). Patients with ALL and AML had a higher prevalence of the GSTM1 deletions compared to controls but only the difference among adult AML patients (OR = 2.1, 95% CI = 1.0-4.2) was statistically significant. The CYP2D6*3 variant allele frequency was lower in the overall acute leukemia patients (0.6%) compared to controls (P = 0.03). CYP2D6*1/*3 genotype frequency also showed a protective association in AML patients (OR = 0.09, 95% CI = 0.01-1.7; P = 0.04). We also found a risk association for CYP2E1*5 in ALL and AML (OR = 3.6, 95% CI = 1.4-9.4 and OR = 3.9, 95% CI = 1.4-10.5, respectively). No association was found for the studied CYP2D6*4, CYP1A1*2A, and GSTT1"null" variants and the risk of acute leuke-mia (ALL or AML). This case-control study suggests a contribution of CYP2E1, CYP2D6, and GSTM1 "null" variants to the development of acute leukemias.     

MMP-2 C735T、MMP-9 C1562T基因多态性与缺血性卒中患者的卒中及其亚型大动脉粥样硬化性卒中有关，但与转归无关

目的探讨基质金属蛋白酶（matrix metalloproteinase,MMP）-2C735T和MMP-9C1562T基因多态性与缺血性卒中患者的TOAST分型和转归的关系。方法232例缺血性卒中患者根据TOAST标准分被为大动脉粥样硬化性卒中（large artery atherosclerosis,LAA）（n=37）、心源性脑栓塞（cardioembolism,CE）（n=31）、小动脉闭塞性卒中（small artery occlusion,SAO）（n=65）、其他明确原因导致的卒中（stroke of other demonstrated etiology,SOE）（n=2）和原因不明性卒中（stroke of undemonstrated etiology,SUE）（n=97）;对照组为235名健康者。采用限制性片段长度多态性技术检测MMP-2基因C735T和MMP-9基因C1562T多态性。采用Barthel指数（Barthel Index,BI）评价缺血性卒中患者发病21d和90d时的转归。结果缺血性卒中组（CC基因型：63．36％对54．04％,χ2=4．182,P=0．014;C等位基因：79．31％对74．04％,χ2=3．936;P=0．047）及其LAA亚型（CC基因型：78．37％对54．04％,χ2＝7．740,P=0．005;C等位基因：87．83％对74．04％,χ2=6．655,P=0．01）MMP-2735CC基因型和C等位基因频率均显著高于对照组;缺血性卒中组（CT＋TT基因型：21．98％对13．19％,χ2=6．233,P=0．013;T等位基因：11．64％对7．02％,χ2=5．891,P=0．015）及其LAA亚型（cT＋TT基因型：32．43％对13．19％,χ2=8．892,P=0．003;T等位基因：20．27％对13．19％,χ2=13．950,P=0．000）MMP-91562CT＋TT基因型频率和T等位基因频率也均显著高于对照组。多变量logistic回归分析显示,MMP-2735CC基因型（缺血性卒中：优势比1．099,95％可信区间1．038～1．260,P=0．028;LAA：优势比1．360,95％可信区间1．167～5．774,P=0．009）和MMP-91562TT基因型（缺血性卒中：优势比9．409,95％可信区间1．154—76．722,P=0．036;LAA：优势比8．962,95％可信区间1．380～58．218,P=0．022）携带者缺血性卒中以及LAA亚型发病风险显著增高。MMP-2和MMP-9不同基因型与卒中预后无显著相关性（P均〉0．05）。结论MMP-2735CC基因型和MMP-91562TT基因型与卒中及其LAA亚型的发病风险有关,但与其转归无关。     

Associations of CYP4A11 gene–gene and gene–smoking interactions with essential hypertension in the male eastern Chinese Han population

Objectives: The aim of this study was to investigate the impact of CYP4A11 single-nucleotide polymorphisms (SNP), additional gene–gene and gene–environment interactions on essential hypertension (EH) risk. Methods: A total of 1648 participants (788 males, 860 females), with a mean age of 56.1 ± 14.1 years old, were selected, including 820 EH patients and 828 normotension subjects. Logistic regression was performed to investigate association of SNPs within CYP4A11 gene with high DBP, high SBP and EH risk, and generalized multifactor dimensionality reduction (GMDR) was used to analyze the gene–gene interaction and gene–smoking interaction. Results: Logistic regression analysis showed that EH risk was significantly higher in carriers of C allele of the rs1126742 polymorphism than those with TT genotype (TC+CC versus TT, adjusted OR (95%CI) = 1.56 (1.24–1.91). In addition, we also found that EH risk was also significantly higher in carriers of G allele of the rs3890011polymorphism than those with CC genotype (CG+ GG versus CC, adjusted OR (95%CI) = 1.31 (1.15–2.03). GMDR analysis indicated a potential gene–gene interaction between rs1126742 and rs3890011 and a gene–environment interaction between rs1126742 and smoking. We found that subjects with TC or CC of rs1126742 and CG or GG of rs3890011genotype have the highest EH risk, OR (95%CI) was 2.52 (1.28–3.57). Smokers with TC or CC of rs1126742 genotype have the highest EH risk, OR (95%CI) was 2.20 (1.28–3.40). Conclusions: Gene–gene interaction between rs1126742 and rs3890011 and gene–environment interaction between rs1126742 and smoking were associated with increased EH risk.     

Mannose-binding lectin 2 rs11003123 polymor-phism is associated with the development of hepatocellular carcinoma in patients with hepa-titis B-related cirrhosis in the Chinese population

BACKGROUND: Mannose-binding lectin 2 (MBL2) plays a key role in the host immune response, but whether it is associ-ated with hepatocellular carcinoma (HCC) is not clear. The present study aimed to identify the association between MBL2 gene polymorphisms and HCC in patients with hepatitis B virus (HBV)-related cirrhosis in the Chinese population.
METHODS: A single-nucleotide polymorphism of MBL2, rs11003123, was genotyped and analyzed in a case-control study of HBV-related cirrhotic patients with HCC (n=77) and without HCC (n=40).
RESULTS: We found that Child-Pugh proifles, model for end-stage liver disease score, and the incidence of encephalopathy were all higher in the non-HCC group (P<0.05). A signiifcant association between allele mutants and HCC occurrence was demonstrated by allele comparison (A vs G) (OR=0.34; 95%CI: 0.15-0.76;P=0.006). Heterozygous comparison (GA vs GG) revealed that the individuals with GA mutants had a reduced risk of HCC occurrence compared with those with GG wild type (adjusted OR=0.28; 95% CI: 0.10-0.80;P=0.004). In a dominant model (GA+AA vs GG), a decreased risk of HCC occurrence was observed in individuals with variant geno-types (GA and AA) compared with those with the wild type (adjusted OR=0.30; 95% CI: 0.11-0.85;P=0.004). However, no statistically signiifcant associations were observed between rs11003123 and prognosis of patients with HCC after liver transplantation in both recurrence-free survival and overall survival (P=0.449 andP=0.384, respectively).
CONCLUSION: MBL2 rs11003123 polymorphism may be a marker for the risk of HCC occurrence in patients with HBV-related cirrhosis in the Chinese population.