Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project
Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project
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DOI：
10.1093/hmg/ddw346
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发表时间：
2016-12-15
影响因子：
3.5
通讯作者：
Shen, Chen-Yang
中科院分区：
文献类型：
--
作者：
Chen, Chien-Hsiun;Yang, Jenn-Hwai;Shen, Chen-Yang
台湾生物数据库（Taiwan Biobank，TWB）旨在建立一个全国性的研究数据库，整合台湾30万居民的基因组/表观基因组概况、生活方式、饮食习惯、环境暴露史和长期健康结果。我们在这里描述了一个调查的人口结构的汉族人在这个太平洋岛屿上使用的基因型数据的591,048个SNP在初始冻结的10,801无关TWB参与者。除了在其他汉族人群中报道的南北渐变群外，我们发现台湾汉族人可分为三个渐变群：5%为北方汉族血统，79.9%为南方汉族血统，14.5%属于第三（T）群。我们还发现，这个T组是遗传不同于邻近的东南亚和南岛语族部落，但类似于其他南方汉族人。有趣的是，HLA单倍型A*33：03-B*58：01（一种与病理学相关的MHC等位基因）和MHC区域的SNP之间的高度LD在T起源的受试者中观察到，但在其他汉族人中未观察到。这表明T组个体可能经历了独立于其他南方汉族人的进化事件。基于新发现的人群结构，我们检测了具有南方和北方汉族血统的个体中对II型糖尿病易感的不同位点。最后，作为目前中国人群最大的数据集之一，10，810名受试者的全基因组统计数据通过Taiwan View（https：//taiwanview.twbiobank.org.tw/index;上次访问日期为2016年10月14日）公开访问，以鼓励未来的遗传研究和与台湾岛的合作。
The Taiwan Biobank (TWB) aims to build a nationwide research database that integrates genomic/epigenomic profiles, lifestyle patterns, dietary habits, environmental exposure history and long-term health outcomes of 300,000 residents of Taiwan. We describe here an investigation of the population structure of Han Chinese on this Pacific island using genotype data of 591,048 SNPs in an initial freeze of 10,801 unrelated TWB participants. In addition to the North-South cline reported in other Han Chinese populations, we find the Taiwanese Han Chinese clustered into three cline groups: 5% were of northern Han Chinese ancestry, 79.9% were of southern Han Chinese ancestry, and 14.5% belonged to a third (T) group. We also find that this T group is genetically distinct from neighbouring Southeast Asians and Austronesian tribes but similar to other southern Han Chinese. Interestingly, high degree of LD between HLA haplotype A*33:03-B*58:01, an MHC allele being of pathological relevance, and SNPs across the MHC region was observed in subjects with T origin, but not in other Han Chinese. This suggested the T group individuals may have experienced evolutionary events independent from the other southern Han Chinese. Based on the newly-discovered population structure, we detect different loci susceptible to type II diabetes in individuals with southern and northern Han Chinese ancestries. Finally, as one of the largest dataset currently available for the Chinese population, genome-wide statistics for the 10,810 subjects are made publicly accessible through Taiwan View (https://taiwanview.twbiobank.org.tw/index; date last accessed October 14, 2016) to encourage future genetic research and collaborations with the island Taiwan.