青藏高原藏族高原红细胞增多症与EDNRA基因遗传多态性的关系  

Association between genetic polymorphisms of EDNRA gene and high altitude polycythemia in Tibetans at the Qinghai-Tibetan Plateau

作　　者：胥瑾[1] 杨应忠[1] 王展[2] 汤锋[1] 嘎琴[1] 格日力[1] 

机构地区：[1]青海大学医学院高原医学研究中心,西宁810001 [2]青海大学附属医院肝胆外科

出　　处：《中华医学杂志》2015年第18期1382-1385,共4页National Medical Journal of China

基　　金：国家重点基础研究发展计划（973计划）项目（2012CB518200）;国家国际科技合作项目（2011DFA32720）;国家自然科学基金（31160219）

摘　　要：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。Objective To test the hypothesis that the polymorphisms in EDNRA gene are associated with the susceptibility to high-altitude polycythemia （HAPC） in Tibetans at the Qinghai-Tibetan Plateau in China.Methods We enrolled 63 Tibetan HAPC patients and 131 healthy,age-and gender-matched control Tibetans.All subjects came from Yushu area of Qinghai where the altitude was over 3 500 meters.Five SNPs of EDNRA gene （rs10003447,rs1801708,rs2048894,rs5335 and rs6841581） were genotyped by the Sequenom MassARRAY SNP assays.Results None of five SNPs in EDNRA gene were associated with HAPC risk （P =0.742;P =0.733;P =0.828;P =0.417;P =0.096）.Conclusion EDNRA gene is likely to have adaptive benefits for high altitude environment.However,it is not protective against HAPC in Tibetans.

关 键 词：藏族 高原红细胞增多症 遗传多态性 EDNRA基因 

分 类 号：R555.1[医药卫生—血液循环系统疾病]