title: Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project.
abstract: 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.
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.|National Center for Genome Medicine, Academia Sinica, Taipei City, Taiwan.|School of Chinese Medicine, China Medical University, Taichung City, Taiwan.
authors: Chien-Hsiun
authors: CH
authors: Chen
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.|National Center for Genome Medicine, Academia Sinica, Taipei City, Taiwan.
authors: Jenn-Hwai
authors: JH
authors: Yang
authors: Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, UCLA, CA, USA.
authors: Charleston W K
authors: CWK
authors: Chiang
authors: Taiwan Biobank, Academia Sinica, Taipei City, Taiwan.|Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.
authors: Chia-Ni
authors: CN
authors: Hsiung
authors: Taiwan Biobank, Academia Sinica, Taipei City, Taiwan.|Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.
authors: Pei-Ei
authors: PE
authors: Wu
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.|National Center for Genome Medicine, Academia Sinica, Taipei City, Taiwan.
authors: Li-Ching
authors: LC
authors: Chang
authors: Taiwan Biobank, Academia Sinica, Taipei City, Taiwan.|Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.
authors: Hou-Wei
authors: HW
authors: Chu
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.
authors: Josh
authors: J
authors: Chang
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.
authors: I-Wen
authors: IW
authors: Song
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.
authors: Show-Ling
authors: SL
authors: Yang
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.
authors: Yuan-Tsong
authors: YT
authors: Chen
authors: Taiwan Biobank, Academia Sinica, Taipei City, Taiwan.|Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.
authors: Fu-Tong
authors: FT
authors: Liu
authors: Taiwan Biobank, Academia Sinica, Taipei City, Taiwan.|Institute of Biomedical Sciences, Academia Sinica, Taipei City, Taiwan.|College of Public Health, China Medical University, Taichung City, Taiwan.
authors: Chen-Yang
authors: CY
authors: Shen
mesh_terms: D044466:Asian People / Q000235:genetics*; D018070:Biological Specimen Banks; D002681:China; D005260:Female; D005828:Genetics, Population; D005838:Genotype; D015234:HLA-A Antigens / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013624:Taiwan
chemical_list: D015234:HLA-A Antigens