September 2013

Gene Variants Identified in African American Blood Pressure Study


A new study detailing the largest-ever genetic analysis of blood pressure in African Americans has identified five gene variants linked to the trait. According to the study, which was published recently in the American Journal of Human Genetics, three of the gene variants have not previously been implicated in blood pressure, and represent novel findings.

“High blood pressure occurs in roughly 40 percent of African Americans, which is a much higher rate than in other U.S. ethnic groups, and adds a significant risk to the development of cardiovascular disease,” said one of the co-senior authors of the paper, The Center for Applied Genomics geneticist Brendan J. Keating, DPhil.

“The discovery component of this study included data from nearly 30,000 African American individuals,” said Dr. Keating. In the replication phase, the researchers validated the findings in over 100,000 individuals of different ancestries.

While the research findings do not have immediate implications for treatment, the hope is that discovering genes associated with disease risks will bring scientists closer to biological pathways and may suggest useful drug targets for new treatments.

The other two senior co-authors of the study are Xiaofeng Zhu, PhD, of Case Western Reserve University, Cleveland, and Nora Franceschini, MD, MPH, of the University of North Carolina, Chapel Hill. There were dozens of co-authors in this meta-analysis, which combined data from 19 cohorts of adult subjects who contributed their DNA to previous genome-wide association study analyses.

Three of the variants discovered in the African American samples, in the genes EVX1-HOXA, RSPO3 and PLEKHG1, had not previously been reported for blood pressure. Two other gene variants in those subjects had previously been discovered in patients of European ancestry.

“These findings actually explain only a very small portion of the genetic variation that we know underpins blood pressure in individuals of African ancestry, so further independent studies need to be added to these efforts to discover even more variants,” said Dr. Keating. “Gaining more biological knowledge of the factors underlying blood pressure levels will help us to obtain new insight into the development of hypertension and to identify potential new drug candidates for therapy.”

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