Chen Chien-Hsiun, Yang Jenn-Hwai, Chiang Charleston W K, Hsiung Chia-Ni, Wu Pei-Ei, Chang Li-Ching, Chu Hou-Wei, Chang Josh, Song I-Wen, Yang Show-Ling, Chen Yuan-Tsong, Liu Fu-Tong, Shen Chen-Yang
Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.
National Center for Genome Medicine, Academia Sinica, Taipei City, Taiwan.
Hum Mol Genet. 2016 Dec 15;25(24):5321-5331. doi: 10.1093/hmg/ddw346.
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 A33:03-B58:01, 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.
台湾生物银行（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/表观基因组图谱、生活方式模式、饮食习惯、环境暴露史和长期健康结果。我们在此描述了一项利用10801名无关TWB参与者初始冻结数据中的591048个单核苷酸多态性（SNP）基因型数据，对这个太平洋岛屿上汉族人群结构的调查。除了其他汉族人群中报道的南北梯度变化外，我们发现台湾汉族人群聚为三个梯度组：5%具有北方汉族血统，79.9%具有南方汉族血统，14.5%属于第三个（T）组。我们还发现，这个T组在基因上与邻近的东南亚人和南岛语族部落不同，但与其他南方汉族相似。有趣的是，在起源于T组的受试者中观察到，与病理相关的主要组织相容性复合体（MHC）等位基因HLA单倍型A33:03 - B58:01与整个MHC区域的SNP之间存在高度连锁不平衡（LD），而在其他汉族人群中未观察到。这表明T组个体可能经历了与其他南方汉族独立的进化事件。基于新发现的人群结构，我们在具有南方和北方汉族血统的个体中检测到了不同的II型糖尿病易感位点。最后，作为目前可用于中国人群的最大数据集之一，10810名受试者的全基因组统计数据通过台湾视角（https://taiwanview.twbiobank.org.tw/index；最后访问日期为2016年10月14日）公开提供，以鼓励未来与台湾岛的基因研究和合作。
