EPAS1基因多态性与青藏高原藏族人群的高原红细胞增多症相关。
EPAS1 Gene Polymorphisms Are Associated With High Altitude Polycythemia in Tibetans at the Qinghai-Tibetan Plateau.
作者信息
Xu Jin, Yang Ying-Zhong, Tang Feng, Ga Qin, Tana Wuren, Ge Ri-Li
机构信息
Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge); Department of Clinical Medicine, Qinghai University School of Medicine, Qinghai, China (Dr Xu).
Research Center for High Altitude Medical Sciences, Qinghai University School of Medicine, Qinghai, China (Drs Xu, Yang, Tang, Ga, Tana, and Ge).
出版信息
Wilderness Environ Med. 2015 Sep;26(3):288-94. doi: 10.1016/j.wem.2015.01.002. Epub 2015 Mar 16.
OBJECTIVE
To test the hypothesis that the polymorphisms in the EPAS1 gene are associated with the susceptibility to high altitude polycythemia (HAPC) in Tibetans at the Qinghai-Tibetan Plateau.
METHODS
We enrolled 63 Tibetan HAPC patients and 131 matched healthy Tibetans as a control group, from the Yushu area in Qinghai where the altitude is greater than 3500 m. Eight single-nucleotide polymorphisms (SNPs) of the EPAS1 gene, including rs12619696, rs13420857, rs2881504, rs4953388, rs13419896, rs4953354, rs10187368, and rs7587138, were genotyped by the Sequenom MassARRAY SNP assay.
RESULTS
The frequencies of the G allele of EPAS1 SNP rs13419896 were significantly higher in the HAPC group than in the control group (P < .05). Moreover, the A alleles of rs12619696 and rs4953354 were prevalent in the HAPC group, and their counterpart homozygotes were prevalent in the normal Tibetan group (P < .05).
CONCLUSIONS
Compared with normal Tibetans, Tibetans with HAPC are maladapted and have a different haplotype in EPAS1 SNPs rs12619696, rs13419896, and rs4953354.
目的
验证如下假设，即EPAS1基因多态性与青藏高原藏族人群患高原红细胞增多症（HAPC）的易感性相关。
方法
我们招募了63名藏族HAPC患者和131名匹配的健康藏族作为对照组，他们均来自青海玉树地区，该地区海拔高于3500米。采用Sequenom MassARRAY SNP检测法对EPAS1基因的8个单核苷酸多态性（SNP）进行基因分型，这些SNP包括rs12619696、rs13420857、rs2881504、rs4953388、rs13419896、rs4953354、rs10187368和rs7587138。
结果
EPAS1 SNP rs13419896的G等位基因频率在HAPC组中显著高于对照组（P < .05）。此外，rs12619696和rs4953354的A等位基因在HAPC组中较为普遍，而其对应的纯合子在正常藏族组中更为普遍（P < .05）。
结论
与正常藏族相比，患有HAPC的藏族适应性较差，并且在EPAS1 SNPs rs12619696、rs13419896和rs4953354中具有不同的单倍型。
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