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Blood pressure genetics: time to focus
1Department of Physiology, University of Melbourne, Victoria, Australia.
Journal of the American Society of Hypertension : JASH
|April 23, 2010
Summary
Genetic studies of high blood pressure (BP) have yielded limited results. Genome-wide association studies (GWAS) identified genetic loci influencing BP, but these explain only a small fraction of its heritability.
Area of Science:
- Genetics
- Cardiovascular Disease
- Genomics
Background:
- The genetic study of high blood pressure (BP) has a complex history.
- Genome-wide association studies (GWAS) were expected to provide significant insights into BP regulation.
Purpose of the Study:
- To review the history and current state of genetic studies on high blood pressure.
- To advocate for a shift in focus towards confirmed genetic loci and their functional mechanisms.
Main Methods:
- Review of recent large-scale genome-wide association studies (GWAS), including CHARGE and GlobalBPgen.
- Analysis of the proportion of genetic variance in BP explained by identified loci.
Main Results:
- The largest GWAS identified genetic loci accounting for only approximately 2% of the genetic factors influencing BP.
- Identified loci have a small estimated effect on BP, typically 1 mm Hg or less.
- Numerous other loci with even smaller effects (<0.5 mm Hg) are likely to exist.
Conclusions:
- Current GWAS approaches have limited success in explaining the genetic architecture of high blood pressure.
- Future research should concentrate on characterizing confirmed genetic loci and their functional roles.
- Understanding precise deoxyribonucleic acid variants and their mechanisms is crucial for developing novel prevention and treatment strategies for high BP.
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