Zhang Lei, Sui Rubo
School of Nursing, Liaoning Medical College, Jinzhou, China.
Cell Biochem Biophys. 2014 Sep;70(1):233-9. doi: 10.1007/s12013-014-9887-6.
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.
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。