rs12122341多态性与中国汉族人缺血性卒中发病风险无关

目的 探讨rs12122341多态性与中国汉族人群缺血性卒中及其主要亚型的相关性.方法 纳入来自中国汉族人群的缺血性卒中患者和健康对照者,采用改良多重高温连接酶法检测rs12122341基因型.结果 共纳入776例缺血性卒中患者(大动脉粥样硬化性卒中415例,小动脉闭塞性卒中361例)和776例健康对照者.基因分型显示,在所有研究对象中仅检测到rs12122341CC和CG 2种基因型,未检测到GG基因型.病例组等位基因和基因型频率与对照组均无显著性差异.多变量logistic回归分析显示,rs12122341多态性与缺血性卒中[优势比(odds ratio,OR) 1.482,95％可信区间(confidence interval,CI)0.641～3.421;P=0.447]、大动脉粥样硬化性卒中(OR 1.972,95％ CI0.655 ～6.034;P=0.227)和小动脉闭塞性卒中(OR1.632,95％CI0.437 ～6.262;P=1.000)均无显著相关性.结论 在中国汉族人群中,rs12122341多态性与缺血性卒中及其主要亚型均无显著相关性.     

连接蛋白37基因C1019T多态性与缺血性卒中及其转归的相关性

目的 探讨连接蛋白37(connexin37,Cx37)基因C1019T多态性与缺血性卒中及其转归的关系.方法 采用限制性片段长度多态性分析技术检测缺血性卒中组和对照组Cx37基因C1019T多态性的分布,采用改良Rankin量表(modified Rankin Scale,mRS)评价发病后3个月时神经功能转归.结果 纳入急性缺血性卒中患者232例,其中转归良好(mRS评分＜3分)210例,转归不良(mRS评分≥3分)22例;对照组235例.缺血性卒中组TT基因型(12.93％对6.39％;x2=10.087,P=0.006)和T等位基因(31.25％对21.49％;x2 =11.466,P=0.001)频率显著高于对照组.多变量logistic回归分析显示,TT基因型[优势比(odds ratio,OR)5.794,95％可信区间(confidence interval,CI)1.405～23.894;P=0.015]和T等位基因(OR 131.016,95％ CI 6.943～2472.477;P =0.001)可显著增高缺血性卒中的发病风险.单因素分析显示,TT基因型(OR 0.650,95％ CI 0.144～2.934;P=0.575)、CT基因型(OR 0.622,95％ CI 0.234～1.655;P=0.342)、CC基因型(OR 0.654,95％ CI0.268～1.595;P=0.350)与缺血性卒中转归均无显著相关性.结论 Cx37 1019TT基因型和T等位基因可增高缺血性卒中风险,T等位基因是缺血性卒中的遗传易感因素之一,但其基因多态性与缺血性卒中发病3个月时的转归无关.     

中国汉族人群前列腺干细胞抗原基因rs2294008多态性与胃癌关系的研究

背景:前列腺干细胞抗原(PSCA)基因多态性与日本人群弥漫型胃癌的发生相关。目的:探讨PSCA rs2294008多态性与中国汉族人群胃癌发病、胃癌临床病理特征和患者预后之间的关系。方法:以PCR-RFLP方法判定460例胃癌患者和549例健康对照者的PSCA rs2294008基因型,分析rs2294008基因型与胃癌发病风险和胃癌临床病理特征之间的关系并进行生存分析。结果:病例组与对照组的PSCA rs2294008基因型分布频率差异有统计学意义(P=0.018)。与CC基因型相比.携带T等位基因(TT/TC)显著增加胃癌的发病风险(OR=1.42,95% CI:1.10～1.82,P=0.006)。进一步按胃癌临床病理特征进行分层分析,携带T等位基因显著增加肠型(OR=1.55,95% CI:1.18～2.04,P=0.002)、低分化(OR=1.59,95% CI:1.19～2.13,P=0.002)、非贲门(OR=1.55,95% CI:1.17～2.04,P=0.002)胃癌的发病风险。Cox回归分析显示TT基因型(HR=2.12,95% CI:1.22～3.69,P=0.008)和肿瘤的TNM分期是影响胃癌患者预后的危险因素。结论:PSCA rs2294008 T等位基因与中国汉族人群的胃癌发病有关,可增加肠型、低分化、非贲门胃癌的发病风险,TT基冈型是影响胃癌患者预后的危险因素之一。     

前列环素合酶基因 rs5602多态性与中国汉族人群缺血性卒中的相关性

目的：探讨前列环素合酶(prostaglandin I2 synthase, PGIS)基因 rs5602单核苷酸多态性与中国汉族人群缺血性卒中的相关性。方法纳入汉族缺血性卒中患者和健康对照者,采用基质辅助激光解吸电离飞行时间质谱法( matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, MALDI TOF MS)检测 rs5602多态性。结果共纳入297例缺血性卒中患者(男性177例,女性120例)和291名同期体检的健康对照者(男性165名,女性126名)。缺血性卒中组男性TT 基因型(31．1%对43．6%;χ2=5．773,P =0．016)和 T 等位基因(56．8%对65．8%;χ2=5．793,P =0．016)分布频率均显著低于对照组男性,而女性则不然。多变量 logistic 回归分析显示,rs5602 TT 基因型是男性缺血性卒中的保护因素(优势比0．260,95%可信区间0．118~0．570;P =0．001)。结论在中国汉族人群中,PGIS 基因 rs5602多态性与男性缺血性卒中有关。     

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.     

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。     

EDNRA和EDNRB基因单核苷酸位点多态性与缺血性脑卒中的相关性

目的探讨中国北方地区汉族人群内皮素受体(EDNR)A和EDNRB基因中单核苷酸多态性(SNP)与缺血性脑卒中(IS)的相关性。方法检测EDNRA基因的3个位点:rs1801708、rs5333、rs5335和EDNRB基因的2个位点:rs3818416、rs5351在对照组、IS组中的多态分布。结果在男性群体中,EDNRA基因rs5335位点突变纯合型CC发病危险度明显降低(P=0.016;OR=0.52;95%CI=0.31~0.88);在女性群体中,EDNRA基因rs1801708位点中,突变纯合型AA发病危险度明显高于G基因携带者(P=0.019;OR=2.65;95%CI=1.18~6.00)。结论 EDNRA基因rs5335位点的C等位基因能够降低北方汉族男性人群IS的发病风险,rs1801708位点的A等位基因能够增加北方汉族女性人群IS的发病风险。     

去整合素金属蛋白酶10基因启动子区多态性变化与腔隙性脑梗死发病风险的关系

目的观察腔隙性脑梗死患者去整合素金属蛋白酶（ADAM）10基因启动子区多态性变化,分析此多态性变化与腔隙性脑梗死发病风险的关系。方法研究对象为173例腔隙性脑梗死患者（梗死组）和297例非脑血管病体检者（对照组）,采用Snapshot分型技术检测ADAMIO基因启动子区rs653765和rs514049位点多态性,采用B型彩色多普勒超声仪测量颈动脉内膜中层厚度（CIMT）;比较两组位点多态性及其与梗死组性别、年龄、CIMT的关系。结果梗死组ADAMIO基因rs653765位点CC基因型频率显著低于对照组（P=0．0080）、隐性模型CT＋TT基因型频率显著高于对照组（OR：0．54,95％a为0．36—0．81,P=0．0029）,T等位基因频率显著高于对照组（OR=1．95,95％CI为1．37～2．79,P=0．0002）;两组ADAMl0基因rs514049位点的基因型频率和等位基因频率无显著差异（P〉0．05）。携带ADAMIO基因rs653765位点T等位基因的男性发生腔隙性脑梗死的风险显著升高（OR=1．51,95％CI为1．00—2．28,P=0．048）,而≥70岁人群中携带cT基因型或T等位基因者发生腔隙性脑梗死的风险显著升高（OR=1．69,95％CI为1．00—2．85,P=0．046）;ADAMl0基因rs653765和rs514049位点的多态性与腔隙性脑梗死患者cI．MT无明显相关。结论ADAMl0基因rs653765位点T等位基因可能与腔隙性脑梗死的发病有关。     

MMP-2基因多态性与河南汉族群体慢性充血性心力衰竭的相关性

目的探讨基质金属蛋白酶-2(MMP-2)基因多态性与河南汉族群体慢性充血性心力衰竭(CHF)发病的相关性。方法采用限制性扩增片段长度多态性(PCR-RFLP)的方法检测MMP-2基因-1575G/A(rs243866)、-1059G/A(rs17859821)、-790G/T(rs243864)多态性,病例对照分析并运用SHEsis软件分析数据。结果心衰组MMP-2-1575G/A的A等位基因的频率显著降低(P<0.001),OR=0.08<1;MMP-2-790G/T的T等位基因频率显著增加(P<0.01),OR=1.989>1,TT基因型频率在心衰组也增加(P<0.05)。心衰组GGG和GGT单体型的频率明显高于对照组(P<0.01),GGT单体型OR=1.802>1。MMP-2基因SNP-1059G/A位点等位基因及基因型频率在两组间差异没有统计学意义(P>0.05)。结论在河南汉族群体慢性充血性心力衰竭患者中,MMP-2基因1575G/A位点A等位基因可能会降低其患病风险;MMP-2-790G/T的T等位基因和GGT单体型均有可能增加其患病风险;而MMP-2-1059G/A位点可能与CHF的易感性无关。     

ATP结合盒转运体A1基因R219K多态性与中国人缺血性卒中风险:汇总分析

目的 探讨ATP结合盒转运体A1(ATP-binding cassette transporter A1,ABCA1)基因R219K多态性与中国人缺血性卒中的相关性.方法 采用全面的文献检索收集2013年5月以前发表的中国人ABCA1基因R219K多态性与缺血性卒中相关性的病例对照研究.采用Stata 11.0软件包进行汇总分析.采用优势比(odds ratio,OR)及其95％可信区间(confidence interval,CI)评价基因多态性与缺血性卒中的关联强度.结果 共10项研究符合条件纳入分析,包括病例组1 619例,对照组1 907例,入选文献无明显偏倚.汇总分析显示,RK+KK基因型携带者缺血性卒中风险较RR基因型携带者显著性降低8％(OR0.92,95％ CI 0.88～0.96;P =0.000);KK基因型携带者的缺血性卒中风险较RR基因型携带者显著性降低36％(OR 0.64,95％ CI 0.44～0.94;P=0.02);RK基因型携带者的缺血性卒中风险较RR基因型携带者显著性降低19％(OR0.81,95％ CI 0.69～0.95;P=0.009);K等位基因携带者的缺血性卒中风险较R等位基因携带者显著性降低17％(OR 0.83,95％ CI 0.69～0.99;P=0.036).结论 ABCA1基因R219K多态性与中国人缺血性卒中易感性相关,K等位基因可能是中国人缺血性卒中的遗传保护性因素.     

亚甲基四氢叶酸还原酶基因 C677 T多态性与中国山东地区汉族人群缺血性卒中、高尿酸血症的相关性

目的：探讨亚甲基四氢叶酸还原酶（methylenetetrahydrofolatereductase,MTHFR）基因C677 T 多态性与中国山东地区汉族人群缺血性卒中、高尿酸血症的相关性。方法纳入山东地区汉族急性缺血性卒中患者和年龄、性别相匹配的对照者。采用聚合酶链反应扩增和芯片杂交显色技术检测MTHFR基因C677T 多态性,并测定血清尿酸浓度。结果共纳入山东地区汉族急性缺血性卒中患者145例和年龄、性别相匹配的对照者145名。缺血性卒中组糖尿病构成比（26.90％对6.89％;χ2=20.653,P<0.001）以及空腹血糖[（5.56±1.57）mmol/L对（5.01±1.11）mmol/L;t=－3.390, P=0.001]、高半胱氨酸[中位数,四分位数间距：18.2（16.30~22.55）μmol/L对15.20（12.10~17.85）μmol/L;Z=－6.323,P<0.001]和尿酸[43.0（361.60~490.45）μmol/L对285.9（267.00~346.25）μm o l/L;Z=－10.360, P<0.001]水平均显著高于对照组;缺血性卒中组 T T 基因型（42.07％对15.17％;χ2=25.673, P<0.001）和 T 等位基因（58.28％对34.48％;χ2=33.008, P<0.001）分布频率均显著高于对照组。多变量logistic回归分析显示,尿酸[优势比（ odds ratio, OR）1.018,95％可信区间（confidence interval, CI）1.013~1.024;P<0.001]、TT 基因型（对CT 基因型, OR 6.774,95％CI 1.779~25.507;P=0.005）、高血压（ OR 1.919,95％CI 1.013~3.636;P=0.045）、高半胱氨酸（ OR 1.153,95％CI 1.059~1.258;P=0.001）为缺血性卒中的独立危险因素。将缺血性卒中组与对照组合并,共101例存在高尿酸血症,189例尿酸正常。高尿酸血症组糖尿病患者构成比（32.67％对11.64％;χ2=23.749, P<0.001）以及总胆固醇[（5.67±1.56）mmol/L对（5.10±1.33）mmol/L;t=－3.255,P<0.001]和高半胱氨酸[19.50（17.10~24.70）μmol/L对15.40（12.60~18.05）μmol/L;Z=－7.236,P<0.001]水平显著高于尿酸正常组,TT 基因型（55.45％对13.76％;χ2=56.409,P<0.001）和T等位基因（71.79％对32.54％;χ2=79.561,P<0.001）分布频率显著高于尿酸正常组。多变量logistic回归分析显示,TT 基因型（对CC 基因型,OR 6.434,95％CI 2.334~17.736;P<0.001）、CT 基因型（对CC基因型,OR 2.234,95％CI 1.019~4.898;P=0.045）、高半胱氨酸（OR 1.081,95％CI 1.010~1.157;P=0.024）、总胆固醇（OR 1.363,95％CI 1.123~1.653;P=0.002）为高尿酸血症的独立危险因素。结论 MTHFR基因C677T TT 基因型和血清尿酸水平是中国山东地区汉族人群缺血性卒中的独立危险因素,MTHFR基因C677T TT 基因型亦为该人群高尿酸血症的独立危险因素,调整饮食习惯可能对山东地区汉族人群缺血性卒中的预防具有积极意义。     

Methylenetetrahydrofolate reductase C677T gene polymorphism and coronary artery disease in a Chinese Han population: a meta-analysis

Methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism has been suggested to be associated with increased coronary artery disease (CAD) risk. To explore the relationship between MTHFR C677T gene polymorphism and CAD in the Chinese Han population, a meta-analysis was performed. Fourteen separate studies were included and 2981 subjects were involved in the current meta-analysis. The pooled odds ratio (OR) between CAD size to CAD size and control size (CAD/CAD + control) and the corresponding 95% confidence interval (95% CI) between the CC and TT genotype groups were estimated by a random-effects model. Meta-regression was performed to explore the heterogeneity source. The CAD/CAD + control values were 0.45 for the CC genotype group and 0.62 for the TT genotype group. The pooled OR for the CAD/CAD + control between the CC and TT genotype groups was 0.55 (95% CI, 0.37-0.83; P(heterogeneity) = .0004, I(2) = 64.7%). These results indicated that MTHFR C677T gene polymorphism and CAD were significantly associated (P = .005) in the Chinese Han population. Publication year was detected as the main heterogeneity source. In a stratified analysis by publication year, the pooled OR was 0.76 (95% CI, 0.37-1.57; P(heterogeneity) = .0002; I(2) = 79.6%) in subgroup 1 (publication years 1999-2004). No significant association between gene polymorphism and CAD was found in this subgroup (P = .46). In subgroup 2 (publication years 2005-2011), the pooled OR was 0.39 (95% CI, 0.28-0.55; P(heterogeneity) = .53; I(2) = 0); and the association between gene polymorphism and CAD was significant (P < .00001). In the Chinese Han population, the TT genotype for the MTHFR C677T gene appeared to be associated with increased CAD risk.     

内皮型一氧化氮合酶和N5，N10-亚甲基四氢叶酸还原酶基因多态性与苏皖地区汉族人群早发冠心病易感性的相关关系

目的 探讨内皮型一氧化氮合酶(eNOS)基因第7外显子G894T突变和N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T突变与苏皖地区汉族人群早发冠心病(PCAD)发病的关系.方法 采用病例对照研究的方法,应用聚合酶链反应-限制性片长多态性(PCR-RFLP)技术,分别检测131例PCAD患者(PCAD组)和131例年龄、性别相匹配的无冠心病者(对照组)的eNOS和MTHFR基因的单核苷酸多态性,判定其基因型并统计各基因型及等位基因的频率.结果 eNOS基因G894T多态性在PCAD组和对照组中的基因型分布(x2=2.072,P=0.355)和T等位基因频率(x2=0.727,P=0.394)差异均无统计学意义.MTHFR基因C677T基因型在PCAD组CT和TT型分布均高于对照组(x2 =14.290,P=0.001),T等位基因频率亦高于对照组(x2=16.339,P =0.000),差异有显著性(P＜0.05).Logistic回归分析显示,携带MTHFR基因C677TTT基因型是PCAD发病的独立危险因素.结论 eNOS基因G894T多态性可能与苏皖地区汉族人群PCAD发病无关;MTHFR基因677C/T多态性的TT基因型可能增加苏皖地区汉族人群PCAD的患病风险,T等位基因可能是PCAD的遗传易感基因.     

Gene–gene interaction between CD40 and CD226 gene on systemic lupus erythematosus in the Chinese Han population

The aim of the study is to investigate the impact of CD40 and CD226 gene single-nucleotide polymorphism (SNP) and additional gene–gene interaction on systemic lupus erythematosus (SLE) risk in Chinese Han populations. Three SNPs were selected for genotyping in the case–control study: rs4810485, rs763361, and rs3765456. Logistic regression was performed to investigate association between SNP within CD40 and CD226 and SLE. Generalized multifactor dimensionality reduction (GMDR) was used to analyze the interaction among three SNPs. Logistic regression analysis showed that SLE risk was significantly higher in carriers of T allele of rs4810485 in CD40 gene than those with GG genotype (GT+ TT vs GG), adjusted OR (95 % CI) 1.84 (1.40–2.29). In addition, we also found SLE risk was also significantly higher in carriers of rs763361 T allele within CD226 gene than those with CC genotype (CT+ TT vs CC), adjusted OR (95 % CI) 1.89 (1.38–2.13). GMDR analysis suggested a potential gene–gene interaction between rs4810485 and rs763361. Overall, cross-validation consistency of the two-locus model was 10/10, and the testing accuracy was 62.17 %. We also found that subjects with GT or TT of rs4810485 and CT or TT of rs763361 genotype have the highest SLE risk, compared with subjects with GG of rs4810485 and CC of rs763361 genotype, and OR (95 % CI) was 2.14 (1.67–3.08), after covariates adjustment. Our results support an important association of rs4810485 in CD40 gene and rs763361 in CD226 gene polymorphism, combined effect of rs4810485 and rs763361 with increased risk of SLE.     

A coding polymorphism of the kallikrein 1 gene is associated with essential hypertension: a tagging SNP-based association study in a Chinese Han population

OBJECTIVE: The aim of this study was to investigate the association between common variants in the human tissue kallikrein 1 (KLK1) gene and susceptibility to essential hypertension in Chinese Han. METHODS: A tagging single nucleotide polymorphism (tSNP) approach was used for a case-control study in 2411 patients with essential hypertension and 2348 controls. All DNA samples and clinical data were collected from the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA). RESULTS: Based on the HapMap data of Han Chinese in Beijing (CHB) population, two non-synonymous polymorphisms, namely rs5517 (Glu162Lys) and rs5516 (Gln121Glu), were selected as tSNPs which could efficiently tag eight SNPs of the KLK1 gene with R larger than 90% for both haplotypes and single locus. Significant differences were found between groups for frequencies of rs5517 A allele (42.48% in cases versus 39.32% in controls, P=0.0019) and AA genotype [adjusted odds ratio (OR)=1.25 for AA versus AG/GG, P=0.0067]. The haplotype composed of the rs5517 A and rs5516 G allele significantly increased the risk of hypertension, with adjusted OR of 1.12 [95% confidence interval (CI), 1.04-1.28, P=0.0377] when compared with the common haplotype G-C. Diplotype analysis also showed a significant association between the diplotype of AG-AC and essential hypertension (OR=1.34, 95% CI, 1.07-1.68, P=0.0096). CONCLUSIONS: The present study suggested that rs5517 in the KLK1 gene was significantly associated with essential hypertension in a Chinese Han population.     

The 825C/T polymorphism of G-protein beta3 subunit gene and risk of ischaemic stroke

In this study, we investigated the association of G protein beta3 subunit gene (GNB 3) C825T polymorphism with ischaemic stroke and its subtypes in the Chinese Han population in a large case-control study. A total of 990 ischemic stroke patients and 1124 controls were recruited from six medical centres in China. Genotype was determined by polymerase chain reaction and restriction fragment length polymorphism (RFLP) assay. Logistic regression analysis was performed to identify the independent risk factors for stroke. The frequency of 825T carriers is significantly higher in cerebral thrombosis in male subjects (OR=1.35, 95% CI, 1.01-1.82, P=0.046). After further adjustment with traditional risk factors to stroke, the association is not significant. In conclusion, the GNB3 825T allele is not an independent risk factor to ischaemic stroke in the Chinese population.     

CYP2J2基因和EPHX2基因多态性与缺血性脑卒中的遗传易感性

目的 研究我国汉族人群细胞色素P450表氧化酶2J2(CYP2J2),可溶性环氧化物水解酶2(EPHX2)基因多态性与缺血性脑卒中的关系.方法 选择200例缺血性脑卒中患者和350例健康人群,采用PCR-RFLP技术分析两个基因CYP2J2 G-50T,EPHX2 G860A多态性的基因型.结果 仅EPHX2 860A等位基因频率在缺血性脑卒中组与对照组比较有显著性差异.多元Logistic回归分析表明,携带EPHX2 860A等位基因的人群患缺血性脑卒中相对风险率下降50%(OR=0.5).当个体同时携带CYP2J2-50GG和EPHX2 860A (A 示A等位基因)联合基因型时,其患缺血性脑卒中相对风险率下降53.9%(OR=0.461).结论 虽然EPHX2 860A等位基因与缺血性脑卒中有相关性并且为缺血性脑卒中一个独立的保护因子,但联合基因型CYP2J2-50GG/EPHX2 860A 的协同作用对缺血性脑卒中有更强的保护作用.