Genome-wide Association Study Meta-analysis of Blood Pressure Traits and Hypertension in Sub-Saharan African Populations: An AWI-Gen Study

Abstract

Most hypertension-related genome-wide association studies (GWAS) focus on non-African populations, despite hypertension (a major risk factor for cardiovascular disease) being highly prevalent in Africa. The AWI-Gen study GWAS meta-analysis for blood pressure-related traits (systolic and diastolic blood pressure, pulse pressure, mean-arterial pressure and hypertension) from three sub-Saharan African geographic regions (N=10,775), identified two genome-wide significant signals (p<5E-08): systolic blood pressure near P2RY1 (rs77846204; intergenic variant, p=4.25E-08) and pulse pressure near Linc01256 (rs80141533; intergenic variant, p=4.25E-08). No genome-wide signals were detected for the AWI-Gen GWAS meta-analysis with previous African-ancestry GWASs (UK Biobank (African), Uganda Genome Resource). Suggestive signals (p<5E-06) were observed for all traits, with 29 displaying pleiotropic effects and several replicating known associations. Polygenic risk scores developed from studies on different ancestries had limited transferability, with multi-ancestry models providing better prediction. This study provides insights into the genetics and physiology of blood pressure variation in African populations.

Cross-continental environmental and genome-wide association study on children and adolescent anxiety and depression

“…Functional annotation was performed on SNP results from meta and mega-analyses results with FUMA (33), an online platform for the functional mapping of genetic variants. We first defined 'independent significant SNPs' as those surpassing a predefined suggestive threshold p-value (5E-06) Asif et al (34) He et al (35) Singh et al (36) and showing moderate to low linkage disequilibrium (r2 < 0.6). We further defined 'lead SNPs' as the subset of independent SNPs (r2 < 0.1).…”