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

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 d...

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Bibliographic Details
Published in:Scientific reports 2023-12, Vol.13 (1), p.21866-21866, Article 21866
Main Authors: Al-Ali, Amein K., Al-Rubaish, Abdullah M., Alali, Rudaynah A., Almansori, Mohammed S., Al-Jumaan, Mohammed A., Alshehri, Abdullah M., Al-Madan, Mohammed S., Vatte, ChittiBabu, Cherlin, Tess, Young, Sylvia, Verma, Shefali S., Morahan, Grant, Koeleman, Bobby P. C., Keating, Brendan J.
Format: Article
Language:English
Subjects:
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631/45
692/4019
Consanguinity
Genetic diversity
Genetic Predisposition to Disease
Genetic variance
Genome-wide association studies
Genome-Wide Association Study - methods
Genomes
Genotype
Genotyping
Health risks
Heart attacks
Humanities and Social Sciences
Humans
Linkage disequilibrium
Meta-analysis
multidisciplinary
Myocardial infarction
Myocardial Infarction - genetics
Polymorphism, Single Nucleotide
Population studies
Saudi Arabia
Science
Science (multidisciplinary)
Single-nucleotide polymorphism
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Summary: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.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-023-49105-1