AI Article Synopsis
- The study highlights the lack of genome-wide association studies (GWAS) in diverse ancestry groups, leading to missed genetic discoveries and polygenic scores.
- KoGES (Korean Genome and Epidemiology Study) conducted GWAS on 76 traits, finding 2,242 associated genetic loci, including 122 new ones, with many confirmed in Biobank Japan.
- By using advanced genetic testing methods and performing meta-analysis with BBJ, they identified 379 additional associations and improved the predictive power of polygenic risk scores, providing valuable data for understanding East Asian genetic architecture.
Article Abstract
Genome-wide association studies (GWAS) on diverse ancestry groups are lacking, resulting in deficits of genetic discoveries and polygenic scores. We conducted GWAS for 76 phenotypes in Korean biobank data, namely the Korean Genome and Epidemiology Study (KoGES) (n = 72,298). Our analysis discovered 2,242 associated loci, including 122 novel associations, many of which were replicated in Biobank Japan (BBJ) GWAS. We also applied several up-to-date methods for genetic association tests to increase the power, discovering additional associations that are not identified in simple case-control GWAS. We evaluated genetic pleiotropy to investigate genes associated with multiple traits. Following meta-analysis of 32 phenotypes between KoGES and BBJ, we further identified 379 novel associations and demonstrated the improved predictive performance of polygenic risk scores by using the meta-analysis results. The summary statistics of 76 KoGES GWAS phenotypes are publicly available, contributing to a better comprehension of the genetic architecture of the East Asian population.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9903843 | PMC |
| http://dx.doi.org/10.1016/j.xgen.2022.100189 | DOI Listing |
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