Key result
PheWAS validates 29 genotype-phenotype associations in African Americans, including eight novel in this population.
Why the study?
Knowledge of genetic determinants of cardiovascular disease, diabetes, and kidney disease in African Americans remains limited.
Observational (n=7,726)
Yes
p-value: p=<1.5E-7
This cross-racial validation of GWAS findings provides additional evidence for the role of specific genetic loci in cardiovascular and kidney disease processes in African Americans.
Supports cross-ancestry validation of cardiovascular loci; leaves open translation to risk prediction or targeted interventions in African Americans.
BACKGROUND: Cardiovascular disease, diabetes, and kidney disease are among the leading causes of death and disability worldwide. However, knowledge of genetic determinants of those diseases in African Americans remains limited. RESULTS: In our study, associations between 4956 GWAS catalog reported SNPs and 67 traits were examined among 7726 African Americans from the REasons for Geographic and Racial Differences in Stroke (REGARDS) study, which is focused on identifying factors that increase stroke risk. The prevalent and incident phenotypes studied included inflammation, kidney traits, cardiovascular traits and cognition. Our results validated 29 known associations, of which eight associations were reported for the first time in African Americans. CONCLUSION: Our cross-racial validation of GWAS findings provide additional evidence for the important roles of these loci in the disease process and may help identify genes especially important for future functional validation.
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Zhao et al. (2019) conducted an observational in Cardiovascular disease, diabetes, kidney disease, and other traits (n=7,726). 4956 GWAS catalog reported SNPs was evaluated on Significant associations between SNPs and 67 phenotypes (PheWAS) (p=<1.5E-7). A Phenome-Wide Association Study in 7,726 African Americans validated 29 known genotype-phenotype associations, including eight reported for the first time in this population.
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