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Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population. | LitMetric

Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population.

Genomics Inform

Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju 28159, Korea.

Published: December 2021

AI Article Synopsis

  • GWASs have primarily focused on European populations, leading to concerns about the accuracy of disease predictions for non-Europeans.
  • This study validated associations of type 2 diabetes and related traits in 125,850 Koreans, identifying 1,837 statistically significant variants out of 2,900 analyzed.
  • The findings highlight that many non-replicated variants suffered from low statistical power and minor allele frequencies, indicating the need for more inclusive GWAS to enhance precision medicine in diverse populations.

Article Abstract

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 (r2 < 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752982PMC
http://dx.doi.org/10.5808/gi.21071DOI Listing

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