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Exome-wide association study in 54,698 south Asians identifies novel type 2 diabetes associations with RNF19A, HNF4A, and dissects role of coding variants in GP2 and CDKAL1

2025-09-26 genetic and genomic medicine Title + abstract only
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Type 2 diabetes (T2D) disproportionately affects individuals of South Asian ancestry (SAS), yet they remain underrepresented in genetic studies. We performed an exome-wide association study in 54,698 SAS T2D case: controls and follow-up metabolic trait evaluation. We identified ancestry-specific genes and protein-coding variants, including a SAS-specific variant in the known monogenic diabetes gene HNF4A (rs150776703, Pro437Ser), which was associated with protection from T2D (OR = 0.48, p = 2.8x...

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