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.

abstractsObjective 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.