中文摘要：

目的探讨EPAS1基因与高原肺水肿易感性的相关关系。方法选取135例HAPE患者，137例健康平原对照者，135例玉树藏族健康对照者。采用iMLDR技术对EPAS1基因的rs10193827、rs10206434、rs11675232、rs1300613J、rs13419896、m1562453、rs17035010、rs1868092、rs1992846、rs4953354、rs4953359、rs4953361、rs6544889、rs7571218、rs7589621、rs7598371多态性位点在三组样本中进行SNP分型。结果rs10193827、rs11675232、rs13419896、rs17035010、rs1992846、r94953359、rs6544889、rs7589621、rs10206434、rs13006131、rs1562453、rs1868092、rs4953354、rs4953361、研571218、研598371的基因型CC、TT、GG、TT、TT、TT、AA、AA、GG、CC、CC、GG、AA、GG、AA、GG在汉族普遍，而与其对应的反向纯合子则在藏族中普遍，差异有显著性（P〈0．001）。EPAS1基因内含子区域rs13419896、rs1703510、rs6544889的基因型在HAPE-P组和HAPE-r组间差异有显著性（P〈0．05）；rs10193827和rs6544889基因型CC[OR（95％）：1．653（1．023－2．669），P=0．040]和GG[OR（95％）：4．821（1．022－22．745），P=0．029]分别在显性和隐性模式下，与HAPE发病的危险度高。结论EPAS1基因与汉族HAPE的发病相关，与藏族人群高原适应相关。

英文摘要：

Objective To investigate the relationships between EPAS1 gene and the susceptibility to high alti- tude pulmonary edema（HAPE） in Han Chinese. Methods This study enrolled 135 HAPE - susceptible Han Chinese subjects （ HAPE - s）, 137 HAPE - resistant healthy Han Chinese controls （ HAPE - r） and 135 high - land local Ti- betans（HLT） from Yushu earthquake construction population in Qinghai province where the altitude is over 3,500 m above sea level. The rs10193827, rs10206434, rs11675232, rs13006131, rs13419896, rs1562453. rs17035010, rs1868092, rs1992846, rs4953354, rs4953359, rs4953361, rs6544889, rs7571218, rs7589621. rs7598371 polymorphisms were genotyped by improved multiple ligase detection reaction （iMLDR）in all subjects. Results The genotypes CC, TT, GG, TT, TT, TT, AA, AA, GG, CC, CC, GG, AA, GG, AA, GG of rs10193827,rs11675232, rs13419896, rs17035010, rs1992846, rs4953359, rs6544889, rs7589621, rs10206434, rs13006131, rs1562453, rs1868092, rs4953354, rs4953361, rs7571218 and rs7598371, prevalent in Han Chinese, and their coun- terpart homozygotes,prevalent in HLT group. The rs10193827 were significantly associated with HAPE risk under the dominant model of inheritance [ OR （95 % ） ： 1. 653 （ 1. 023 - 2. 669 ） , P = 0.040 ] , while the rs6544889 were sig- nificantly associated with HAPE risk under the recessive model of inheritance [ OR （95 % ） ：4. 821 （ 1. 022 -22.745 ）, P = 0.029 ]. Conclusions This genetic study provided evidence that all of the selected SNPs are strongly associated with high altitude adaptation in the Tibetans. The rs10193827 were significantly associated with HAPE risk under the dominant model of inheritance,while the rs6544889 were significantly associated with HAPE risk under the re- cessive model of inheritance.