Objective To investigate the association between thromboxane A2 receptor (TXA2R)gene exon C795T,T924C,G1686A polymorphisms and cerebral infarction in Chinese Han population.Methods One hundred and fifty-six patients with cerebral infarction and 157 healthy controls,collected in our hospitals from October 2009 to September 2012,were chosen in our study; the triglyceride (TG),total cholesterol (TC),high density lipoprotein cholesterol (HDL-C),low density lipoprotein cholesterol (LDL-C) and blood glucose levels were detected; the genotypes of C795T,T924C and G1686A exon polymorphisms in TXA 2R gene were detected by polymerase chain reaction-ligase detection reaction (PCR-LDR) technique.Results Significant differences in serum TG,glucose and blood pressure levels were noted between cerebral infarction and controls (P＜0.05).However,there were no significant differences in the overall distributions ofgenotypes and frequencies of the alleles in C795T,T924C and G1686A polymorphisms of TXA 2R gene (P＞0.05).Besides,the coefficients of linkage disequilibrium between C795T and T924C,C795T and G1686A,T924C and G1686A were 0.949,0.894 and 0.890,respectively.Conclusions The above mentioned 3 mutants in TXA 2R gene exon might not be risk factors for cerebral infarction in Chinese Han population.A strong linkage disequilibrium occurs in 3 groups:C795T and T924C,C795T and G1686A,T924C and G1686.%目的 探讨中国汉族人群血栓素A2受体(TXA2R)基因C795T、T924C和G1686A 3个外显子位点的多态性与脑梗死的关系. 方法 选择自2009年10月至2012年9月台州市中心医院和上海交通大学医学院附属瑞金医院收治的156例脑梗死患者(脑梗死组)以及157例门诊体检正常者(对照组),采用酶比色法检测三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)及已糖激酶法测定血糖,采用聚合酶链反应-连接酶检测反应(PCR-LDR)技术检测静脉血中C795T、T924C和G1686A外显子位点多态性的基因型. 结果 脑梗死组患者血清TG、血糖浓度及血压(收缩压、舒张压)与对照组比较差异均有统计学意义(P＜0.05).脑梗死组TXA2R基因C795T、T924C和G1686A外显子位点的基因型及等位基因频率分布与对照组相比差异均无统计学意义(P＞0.05).TXA2R基因C795T与T924C之间、C795T与G1686A之间、T924C与G1686A之间的连锁不平衡系数分别为0.949、0.894、0.890. 结论 TXA2R基因3个外显子位点的突变可能不是中国汉族脑梗死患者的独立危险因素;TXA2R基因C795T与T924C、C795T与G1686A、T924C与G1686A之间均存在着强连锁不平衡.
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