Scientific Reports (Dec 2023)

Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts

  • Amein K. Al-Ali,
  • Abdullah M. Al-Rubaish,
  • Rudaynah A. Alali,
  • Mohammed S. Almansori,
  • Mohammed A. Al-Jumaan,
  • Abdullah M. Alshehri,
  • Mohammed S. Al-Madan,
  • ChittiBabu Vatte,
  • Tess Cherlin,
  • Sylvia Young,
  • Shefali S. Verma,
  • Grant Morahan,
  • Bobby P. C. Koeleman,
  • Brendan J. Keating

DOI
https://doi.org/10.1038/s41598-023-49105-1
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 10

Abstract

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Abstract Genome-wide association studies (GWAS) have yielded significant insights into the genetic architecture of myocardial infarction (MI), although studies in non-European populations are still lacking. Saudi Arabian cohorts offer an opportunity to discover novel genetic variants impacting disease risk due to a high rate of consanguinity. Genome-wide genotyping (GWG), imputation and GWAS followed by meta-analysis were performed based on two independent Saudi Arabian studies comprising 3950 MI patients and 2324 non-MI controls. Meta-analyses were then performed with these two Saudi MI studies and the CardioGRAMplusC4D and UK BioBank GWAS as controls. Meta-analyses of the two Saudi MI studies resulted in 17 SNPs with genome-wide significance. Meta-analyses of all 4 studies revealed 66 loci with genome-wide significance levels of p 12% MAF). In conclusion, our results replicated many MI associations, whereas in Saudi-only GWAS (meta-analyses), several new loci were implicated that require future validation and functional analyses.