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

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 < 5 × 10^-8. All of these variants, except rs2764203, have previously been reported as MI-associated loci or to have high linkage disequilibrium with known loci. One SNP association in Shisa family member 5 (SHISA5) (rs11707229) was evident at a much higher frequency in the Saudi MI populations (> 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.

SUBMITTER: Al-Ali AK

PROVIDER: S-EPMC10711020 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature

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

Al-Ali Amein K AK Al-Rubaish Abdullah M AM Alali Rudaynah A RA Almansori Mohammed S MS Al-Jumaan Mohammed A MA Alshehri Abdullah M AM Al-Madan Mohammed S MS Vatte ChittiBabu C Cherlin Tess T Young Sylvia S Verma Shefali S SS Morahan Grant G Koeleman Bobby P C BPC Keating Brendan J BJ

Scientific reports 20231210 1

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 patient ...[more]

PMID: 38072966

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

Publications

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

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