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Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population
Genome-wide association studies (GWASs) facilitated the discovery of countless disease-associated variants. However, GWASs have mostly been conducted in European ancestry samples. Recent studies have reported that these European-based association results may reduce disease prediction accuracy when a...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Korea Genome Organization
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752982/ https://www.ncbi.nlm.nih.gov/pubmed/35012284 http://dx.doi.org/10.5808/gi.21071 |
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author | Jang, Hye-Mi Hwang, Mi Yeong Kim, Bong-Jo Kim, Young Jin |
author_facet | Jang, Hye-Mi Hwang, Mi Yeong Kim, Bong-Jo Kim, Young Jin |
author_sort | Jang, Hye-Mi |
collection | PubMed |
description | Genome-wide association studies (GWASs) facilitated the discovery of countless disease-associated variants. However, GWASs have mostly been conducted in European ancestry samples. Recent studies have reported that these European-based association results may reduce disease prediction accuracy when applied in non-Europeans. Therefore, previously reported variants should be validated in non-European populations to establish reliable scientific evidence for precision medicine. In this study, we validated known associations with type 2 diabetes (T2D) and related metabolic traits in 125,850 samples from a Korean population genotyped by the Korea Biobank Array (KBA). At the end of December 2020, there were 8,823 variants associated with glycemic traits, lipids, liver enzymes, and T2D in the GWAS catalog. Considering the availability of imputed datasets in the KBA genome data, publicly available East Asian T2D summary statistics, and the linkage disequilibrium among the variants (r(2) < 0.2), 2,900 independent variants were selected for further analysis. Among these, 1,837 variants (63.3%) were statistically significant (p ≤ 0.05). Most of the non-replicated variants (n = 1,063) showed insufficient statistical power and decreased minor allele frequencies compared with the replicated variants. Moreover, most of known variants showed <10% genetic heritability. These results could provide valuable scientific evidence for future study designs, the current power of GWASs, and future applications in precision medicine in the Korean population. |
format | Online Article Text |
id | pubmed-8752982 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Korea Genome Organization |
record_format | MEDLINE/PubMed |
spelling | pubmed-87529822022-01-24 Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population Jang, Hye-Mi Hwang, Mi Yeong Kim, Bong-Jo Kim, Young Jin Genomics Inform Original Article Genome-wide association studies (GWASs) facilitated the discovery of countless disease-associated variants. However, GWASs have mostly been conducted in European ancestry samples. Recent studies have reported that these European-based association results may reduce disease prediction accuracy when applied in non-Europeans. Therefore, previously reported variants should be validated in non-European populations to establish reliable scientific evidence for precision medicine. In this study, we validated known associations with type 2 diabetes (T2D) and related metabolic traits in 125,850 samples from a Korean population genotyped by the Korea Biobank Array (KBA). At the end of December 2020, there were 8,823 variants associated with glycemic traits, lipids, liver enzymes, and T2D in the GWAS catalog. Considering the availability of imputed datasets in the KBA genome data, publicly available East Asian T2D summary statistics, and the linkage disequilibrium among the variants (r(2) < 0.2), 2,900 independent variants were selected for further analysis. Among these, 1,837 variants (63.3%) were statistically significant (p ≤ 0.05). Most of the non-replicated variants (n = 1,063) showed insufficient statistical power and decreased minor allele frequencies compared with the replicated variants. Moreover, most of known variants showed <10% genetic heritability. These results could provide valuable scientific evidence for future study designs, the current power of GWASs, and future applications in precision medicine in the Korean population. Korea Genome Organization 2021-12-31 /pmc/articles/PMC8752982/ /pubmed/35012284 http://dx.doi.org/10.5808/gi.21071 Text en (c) 2021, Korea Genome Organization https://creativecommons.org/licenses/by/4.0/(CC) This is an open-access article distributed under the terms of the Creative Commons Attribution license(https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Jang, Hye-Mi Hwang, Mi Yeong Kim, Bong-Jo Kim, Young Jin Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population |
title | Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population |
title_full | Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population |
title_fullStr | Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population |
title_full_unstemmed | Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population |
title_short | Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population |
title_sort | validation and genetic heritability estimation of known type 2 diabetes related variants in the korean population |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752982/ https://www.ncbi.nlm.nih.gov/pubmed/35012284 http://dx.doi.org/10.5808/gi.21071 |
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