Genome-wide association studies have found that rs17612742 increases the risk of large artery atherosclerotic stroke.The rs17612742 was located in the intron region of Endothelin receptor type A(NRA),which was cellula...Genome-wide association studies have found that rs17612742 increases the risk of large artery atherosclerotic stroke.The rs17612742 was located in the intron region of Endothelin receptor type A(NRA),which was cellular and gender-heterogeneous.Functional genomics studies of rs17612742 were carried out through some public databases,and it was found that rs17612742 was located in the chromatin open region and promoted the expression of NRA.Compared with the control group,EDNRA expression increased in middle cerebral artery occlusion exposed rodents.However,age heterogeneity of EDNRA expression under physiological and pathological conditions was not observed.In addition,we also discussed how to conduct further empirical studies to provide evidence that rs17612742 confers the risk of large artery atherosclerotic stroke by increasing the expression of NRA.展开更多
文摘Genome-wide association studies have found that rs17612742 increases the risk of large artery atherosclerotic stroke.The rs17612742 was located in the intron region of Endothelin receptor type A(NRA),which was cellular and gender-heterogeneous.Functional genomics studies of rs17612742 were carried out through some public databases,and it was found that rs17612742 was located in the chromatin open region and promoted the expression of NRA.Compared with the control group,EDNRA expression increased in middle cerebral artery occlusion exposed rodents.However,age heterogeneity of EDNRA expression under physiological and pathological conditions was not observed.In addition,we also discussed how to conduct further empirical studies to provide evidence that rs17612742 confers the risk of large artery atherosclerotic stroke by increasing the expression of NRA.
文摘目的 探讨EDNRA基因的遗传多态性是否和青藏高原藏族的高原红细胞增多症（HAPC）易感性有关.方法 采用病例对照研究策略,研究了63名HAPC藏族和131名健康的、年龄和性别相匹配的对照藏族,所有的藏族都来自中国青海省海拔3 500米以上的玉树地区.采用Sequenom Mass ARRAY的方法检测了所有研究对象EDNRA基因的5个SNP位点（rs10003447,rs1801708,rs2048894,rs5335 and rs6841581）基因型和等位基因分布,比较各SNP位点在两组之间的差异.结果 发现EDNRA基因的5个SNP位点等位基因在HAPC组和健康对照组的分布差异无统计学意义（P=0.742;P=0.733;P=0.828;P=0.417;P=0.096）.结论 虽然EDNRA基因多态性和藏族适应高原有关但是和藏族HAPC的易感性无关。
