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Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in

Jingjing Liang1, Thu H Le2, Digna R Velez Edwards3

  • 1Department of Epidemiology & Biostatistics, School of Medicine, Case Western Reserve University, Cleveland, OH, United States of America.

Plos Genetics
|May 13, 2017
PubMed

Insights

Genetic studies in people of African ancestry identified nine new loci linked to blood pressure and hypertension. These findings highlight specific genetic factors contributing to hypertension risk in this population.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Genomics

Background:

  • Hypertension disproportionately affects individuals of African descent, yet they are underrepresented in genetic research.
  • Understanding genetic susceptibility is crucial for addressing health disparities in hypertension.

Purpose of the Study:

  • To identify novel genetic loci associated with blood pressure and hypertension in individuals of African ancestry.
  • To uncover genetic variants contributing to hypertension risk specific to African-ancestry populations.

Main Methods:

  • Conducted single and multiple-trait genome-wide association analyses on 21 studies (31,968 individuals of African ancestry).
  • Validated findings using an additional 54,395 individuals from multi-ethnic cohorts.
  • Performed functional annotation and in vivo experiments (angiotensin-II induced hypertension in mice).

Main Results:

  • Identified nine loci with eleven independent variants reaching genome-wide significance for blood pressure or hypertension.
  • Discovered novel loci (FRMD3) and variants (at FRMD3, GRP20/CDH17, TARID/TCF21, LLPH/TMBIM4) with alleles common in African-ancestry populations.
  • Functional annotation revealed enrichment in immune, kidney, heart, and vascular tissues; mouse experiments showed altered kidney gene expression.

Conclusions:

  • This study provides significant new genetic insights into hypertension susceptibility in people of African ancestry.
  • Highlights the importance of including diverse populations in genetic studies to identify novel biological factors for hypertension.
  • Identified potential therapeutic targets and underscores the need for population-specific genetic research.

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