A total of 113 novel genetic loci have been identified in the largest single-stage common variant genome-wide association study of blood pressure (BP) reported to date, according to a study published online April 30 in Nature Genetics.
Jacob M. Keaton, Ph.D., from the National Institutes of Health in Bethesda, Maryland, and colleagues examined loci in the largest single-stage BP genome-wide association study to date, including 1,028,980 European individuals.
The researchers identified 113 novel loci and reported 2,103 independent genetic signals. These associations accounted for more than 60 percent of single nucleotide polymorphism-based BP heritability. In an independent dataset, clinically meaningful differences in BP were seen when comparing top versus bottom deciles of polygenic risk scores (16.9 mm Hg systolic BP), and the odds of hypertension were significantly increased (odds ratio, 7.33). The area under the receiver operating characteristic curve increased from 0.791 to 0.826 with the addition of the polygenic risk score into hypertension-prediction models. Comparing the 2,103 loci results in non-European ancestries showed significant polygenic risk score associations in a large sample of African American individuals. In secondary analyses, 500 genes previously unreported for BP were implicated.
“Our study results suggest that efforts should continue for future BP-genome-wide associated studies to leverage large-scale biobank resources and cohort studies to expand the sample size further, as well as extending to diverse ancestries,” the authors write.
Several authors disclosed ties to the biopharmaceutical industry.
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