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内皮素1、内皮素受体A和内皮素受体B基因的单核苷酸多态性对缺血性中风的影响。

Effect of SNP polymorphisms of EDN1, EDNRA, and EDNRB gene on ischemic stroke.

作者信息

Zhang Lei, Sui Rubo

机构信息

School of Nursing, Liaoning Medical College, Jinzhou, China.

出版信息

Cell Biochem Biophys. 2014 Sep;70(1):233-9. doi: 10.1007/s12013-014-9887-6.

DOI:10.1007/s12013-014-9887-6
PMID:24633486
Abstract

The objective of this study is to investigate the association between SNP polymorphisms of endothelin-1 (EDN1) and endothelin receptor (EDNRA and EDNRB) gene and ischemic stroke (IS) in the Chinese Han population in northern. A case-control study was introduced. We genotyped eight SNPs (rs1800541, rs2070699, and rs5370 in EDN1 gene; rs1801708, rs5333, and rs5335 in EDNRA gene; and rs3818416 and rs5351 in EDNRB gene) and calculated their polymorphic distribution in control group, IS group, and the IS subgroups. In male population, EDN1 gene rs2070699 G allele increased the incidence risk to 1.78 times (P = 0.009; OR 1.78; 95 % CI 1.15-2.75) and the risk of morbidity of rs5370 T allele carrying increased to 1.49 times (P = 0.048; OR 1.49; 95 % CI 1.00-2.21). EDNRA gene mutation rs5335 homozygous CC morbidity risk was significantly lower (P = 0.016; OR 0.52; 95 % CI 0.31-0.88). In the female population, the mutant homozygous AA cancer risk was significantly higher than G allele carriers (P = 0.019; OR 2.65; 95 % CI 1.18-6.00) on EDNRA gene rs1801708. In EDN1 gene, T allele of rs5370 and G allele of rs2070699 may be IS incidence risk factors in Northern Han male population. A allele of rs1801708 in EDNRA gene can increase the risk of IS in Northern Han women population.

摘要

本研究的目的是调查中国北方汉族人群中内皮素 -1(EDN1)、内皮素受体(EDNRA和EDNRB)基因的单核苷酸多态性(SNP)与缺血性脑卒中(IS)之间的关联。采用病例对照研究。我们对8个SNP进行基因分型(EDN1基因中的rs1800541、rs2070699和rs5370;EDNRA基因中的rs1801708、rs5333和rs5335;EDNRB基因中的rs3818416和rs5351),并计算它们在对照组、IS组和IS亚组中的多态性分布。在男性人群中,EDN1基因rs2070699的G等位基因使发病风险增加至1.78倍(P = 0.009;OR 1.78;95%CI 1.15 - 2.75),携带rs5370 T等位基因的发病风险增加至1.49倍(P = 0.048;OR 1.49;95%CI 1.00 - 2.21)。EDNRA基因rs5335纯合子CC发病风险显著降低(P = 0.016;OR 0.52;95%CI 0.31 - 0.88)。在女性人群中,EDNRA基因rs1801708的突变纯合子AA发病风险显著高于G等位基因携带者(P = 0.019;OR 2.65;95%CI 1.18 - 6.00)。在EDN1基因中,rs5370的T等位基因和rs2070699的G等位基因可能是北方汉族男性人群IS的发病风险因素。EDNRA基因rs1801708的A等位基因可增加北方汉族女性人群IS的风险。

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