Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes

doi:10.1038/s42003-022-04168-0

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Please use this identifier to cite or link to this item: https://tkuir.lib.tku.edu.tw/dspace/handle/987654321/123287

Title:	Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes
Authors:	Lee, Chia-Jung;Chen, Ting-Huei;Lim, Aylwin Ming Wee;Chang, Chien-Ching;Sie, Jia-Jyun;Chen, Pei-Lung;Chang, Su-Wei;Wu, Shang-Jung;Hsu, Chia-Lin;Hsieh, Ai-Ru;Yang, Wei-Shiung;Fann, Cathy S. J.
Date:	2022-11-03
Issue Date:	2023-04-28 17:33:19 (UTC+8)
Publisher:	Nature Publishing Group
Abstract:	To explore the complex genetic architecture of common diseases and traits, we conducted comprehensive PheWAS of ten diseases and 34 quantitative traits in the community-based Taiwan Biobank (TWB). We identified 995 significantly associated loci with 135 novel loci specific to Taiwanese population. Further analyses highlighted the genetic pleiotropy of loci related to complex disease and associated quantitative traits. Extensive analysis on glycaemic phenotypes (T2D, fasting glucose and HbA1c) was performed and identified 115 significant loci with four novel genetic variants (HACL1, RAD21, ASH1L and GAK). Transcriptomics data also strengthen the relevancy of the findings to metabolic disorders, thus contributing to better understanding of pathogenesis. In addition, genetic risk scores are constructed and validated for absolute risks prediction of T2D in Taiwanese population. In conclusion, our data-driven approach without a priori hypothesis is useful for novel gene discovery and validation on top of disease risk prediction for unique non-European population.
Relation:	Communications Biology 5, 1175
DOI:	10.1038/s42003-022-04168-0
Appears in Collections:	[統計學系暨研究所] 期刊論文

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