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American Heart Association

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Final ID: Mon036

Characterizing Coronary Artery Disease Risk Loci in South Asian Populations: Genetic Architecture, Biological Pathways, and GWAS Replication

Abstract Body: South Asian populations experience a disproportionately high burden of Coronary Artery Disease (CAD), but identification and interpretation of the genetic loci associated with CAD in this population remains limited. The objective of this project was to analyze a curated set of 11 genome-wide significant CAD-associated loci reported in studies including South Asian populations, characterizing their effect sizes, biological pathways, and replication across global Genome-Wide Association Studies (GWAS). To evaluate replication of the curated loci across independent studies, an additional dataset was obtained from the NHGRI-EBI GWAS Catalog. Analysis of the loci, which showed a median odds ratio (OR) of ~1.09 and an OR range of 1.07–1.33, is consistent with a polygenic genetic architecture, where numerous variants contribute small increments of risk to the overall pathological phenotype. When mapped to biological pathways (Lipid metabolism, Inflammation, Cell signaling, Vascular remodeling), genetic signals converged on known CAD mechanisms. Cumulative genetic contribution analysis suggested that lipid metabolism contributed the largest approximate signal (~36%), consistent with its established central role in CAD pathogenesis. Replication analysis across the GWAS Catalog found that many of these curated loci, including PHACTR1 (~58 associations) and CELSR2 (~53 associations), appear frequently across independent studies. Overall, these results suggest that CAD risk in the South Asian population follows a polygenic pattern and that the identified CAD loci substantially overlap with well-established global CAD risk loci. Further research testing polygenic risk scores derived from this data is warranted. This approach centers South Asian CAD loci in the broader context of cardiovascular genetics, providing clearer biological interpretation of individual and population risk.
  • Patel, Suraj  ( Stony Brook Medicine , Kendall Park , New Jersey , United States )
  • Kaur, Jasmeen  ( Stony Brook Medicine , Kendall Park , New Jersey , United States )
  • Parthasarathy, Praveen  ( Stony Brook Medicine , Kendall Park , New Jersey , United States )
  • Rahman, Tahmid  ( Stony Brook University Hospital , Stony Brook , New York , United States )
  • Author Disclosures:
Meeting Info:

Basic Cardiovascular Sciences 2026

2026

Boston, Massachusetts

Session Info:

Poster Session 1

Monday, 07/13/2026 , 04:30PM - 07:00PM

Poster Session and Reception

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