SELS、LRRFIP1基因多态性与缺血性脑卒中易感性研究

Association of gene polymorphism of SELS and LRRFIP1 with susceptibility of ischemic stroke

目的探讨硒蛋白S(SELS)基因、富含亮氨酸重复序列相互作用蛋白1(LRRFIP1)基因多态性与缺血性脑卒中的关系。方法选择2003年9月至2013年6月239例缺血性脑卒中新发病例(病例组)及240例健康对照(对照组)为研究对象。利用荧光定量PCR的Taqman探针法检测SELS基因(rs34713741、rs4965814)、LRRFIP1基因(rs3769053)多态位点的基因型,并采用病例对照研究方法分析其与缺血性脑卒中的相关性。结果 SELS基因rs34713741 C/T多态性(OR=1.236,95%CI:0.862~1.772)与缺血性脑卒中的发生无关;rs4965814 T/C多态性(OR=1.537,95%CI:1.038~2.276)与缺血性脑卒中的发生有关。LRRFIP1基因rs3769053 T/C多态性(OR=1.177,95%CI:0.817~1.695)与缺血性脑卒中的发生无关。调整年龄、高血压史、糖尿病史、吸烟、饮茶、低密度脂蛋白胆固醇(LDL-C)、血糖因素后,SELS基因rs4965814位点T/C多态性(OR=1.825,95%CI:1.056~3.155)仍与缺血性脑卒中有关,即T/C多态性增加缺血性脑卒中的发生风险,未见SELS基因rs34713741、LRRFIP1基因rs3769053多态性与缺血性脑卒中有关联。结论 SELS基因rs4965814T/C多态性与我国东北汉族人群缺血性脑卒中的发病相关,可能是其发病的危险因素。

Objective To investigate the association of gene polymorphism of selenoprotein S （SELS） gene and leucine- rich repeat（ in FLI1 ） interacting protein 1 （ LRRFIP1 ） gene with ischemic stroke. Methods A total of 239 new cases of ischemie stroke（ case group） and 240 healthy subjects（ control group） from September 2003 to June 2013 were selected as research objects. Taqman probe fluorescent quantitative PCR method was used to detect genotypes of polymorphic loci of SELS gene （rs34713741, rs4965814） and LRRFIP1 gene （rs3769053）. Using case-control study method,the correlation of the genotypes with ischemic stroke was analyzed. Results There was no association between rs34713741 C/T polymorphism of SELS gene and the occurrence of ischemic stroke（ OR = 1. 236,95% CI：O. 862 - 1. 772）. There was a significant association between rs4965814 T/C polymorphism of SELS gene and the occurrence of ischemic stroke（ OR = 1. 537,95% CI： 1. 038 -2. 267 ）. There was no association between rs3769053 T/C polymorphism of LRRFIP1 gene and the occurrence of ischemie stroke（ OR = 1. 177,95% CI：0. 817 - 1. 695 ）. After adjusting age,history of hypertension,history of diabetes, smoking, tea drinking,low density lipoprotein cholesterol（LDL-C） and blood sugar, rs4965814 T/C polymorphism of SELS gene was still associated with ischemic stroke （ OR = 1. 825,95% CI： 1. 056 - 3. 155 ）, namely, rs4965814 T/C polymorphism increases the risk of ischemic stroke. The associations of rs34713741 polymorphism of SELS gene and rs3769053 polymorphism of LRRFIP1 gene with ischemie stroke were not found. Conclusion SELS gene rs4965814 T/C polymorphism was correlated with occurrence of ischemic stroke in the Han population in Northeast of China, and its T/C polymorphism may be a risk factor of ischemic stroke occurrence.