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Locus 9p21.3 CAD Risk Across Diverse Populations: LD and Allelic Heterogeneity Explain Variation Across Ancestries and Reduced Replication in Africans

2026-01-03 genetic and genomic medicine Title + abstract only
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BackgroundThe 9p21.3 locus was the first genome-wide significant signal for coronary artery disease (CAD) and replicates across multiple non-African populations, yet is absent in African ancestry cohorts. We hypothesized that ancestry-specific linkage disequilibrium (LD) and haplotype structure, rather than allele frequency or power alone, explain this discrepancy. MethodsWe analyzed multi-ancestry data from European, East Asian, South Asian, Middle Eastern, African, and Admixed American groups...

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