本研究对亚洲9个平原地区人群EPAS1基因intron-2上两个选择信号较强的SNP位点（rs149594770和rs73926265）进行了基因分型，发现有6个人群携带有衍生型（适应性）突变。进一步对携带衍生型突变的个体的TED区域做检测发现其中58%的个体携带有TED，并存在3个纯合子。随后，我们对这些个体的intron-2部分区域进行了重测序。结合从数据库收集的24个世界各地的平原地区人群，以及实验室前期发表的藏族人群数据进行分析，发现与藏族人群拥有相似单倍型的人群包括BEB（孟加拉国人群）、CHB（中国北方汉族）、CHS（中国南方汉族）、兰州汉族、大连汉族、CDX（西双版纳傣族）、KHV（越南胡志明市京族）、EA（东亚人群中的达斡尔族和纳西族个体）、SA（南亚人群中的勃律个体）、CAM（柬埔寨人群）、云南布朗族以及丹尼索瓦人。我们的研究结果提示，藏族人群EPAS1基因的多态性模式以及适应性单倍型可能同时来源于丹尼索瓦人的基因渗透和其他人群的基因交流。东亚平原人群中EPAS1藏族特异的单倍型频率很低，可能源于最近的基因交流。; We genotyped amount of samples from 9 Asian populations at two SNPs (rs149594770 and rs73926265) which are under stronger selection than other SNPs on EPAS1 intron-2. We found samples from 6 populations carried derived alleles. We also genotyped samples with derived alleles on the TED region, found 58% of them carried the TED, and in addition, two of them were homozygous TED. Combined with data of 24 worldwide populations and Tibetan samples reported in our previously research, we further studied the haplotype of EPAS1 intron-2 after resequenced two regions on the EPAS1 intron-2 for these samples. We found a unique Tibetan haplotype of EPAS1 intron-2. Moreover this haplotype was also seen in BEB, CHB, CHS, Han Chinese from Lanzhou and Dalian, CDX, KHV, EA, SA, CAM, the Blang people in Yunnan, and Denisovan. Our results suggest that the pattern of EPAS1 sequence polymorphism and the unique adaptive haplotype of Tibetans might be introgressed from Denisovans and other populations. On the other side, Eastern Asians living in lowland got the unique Tibetan haplotype and sequence polymorphism of EPAS1 at a low frequency from recent gene flows.
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