https://scholars.lib.ntu.edu.tw/handle/123456789/628633
標題: | Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes | 作者: | Lee, Chia-Jung Chen, Ting-Huei Lim, Aylwin Ming Wee Chang, Chien-Ching Sie, Jia-Jyun PEI-LUNG CHEN Chang, Su-Wei Wu, Shang-Jung Hsu, Chia-Lin Hsieh, Ai-Ru WEI-SHIUNG YANG Fann, Cathy S J |
關鍵字: | MENDELIAN RANDOMIZATION; REGULATORY PROTEIN; TYPE-2; GLUCOKINASE; INDIVIDUALS; SECRETION | 公開日期: | 3-十一月-2022 | 出版社: | NATURE PORTFOLIO | 卷: | 5 | 期: | 1 | 來源出版物: | Acta Crystallographica Section F Structural Biology Communications | 摘要: | 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/628633 | ISSN: | 2399-3642 | DOI: | 10.1038/s42003-022-04168-0 |
顯示於: | 基因體暨蛋白體醫學研究所 |
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