Genome-Wide Association Studies: Contribution of Genomics to Understanding Blood Pressure and Essential Hypertension
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Contemporary genomic tools now allow the fast and reliable genotyping of hundreds of thousands of variants and permit an unbiased interrogation of the common variability across the human genome. These technical advances have been the basis of numerous recent investigations of genes underlying complex genetic traits, and the results for blood pressure and hypertension have been of particular interest. The pathophysiology of the complex genetic trait blood pressure and hypertension is unclear. The heritability of essential hypertension is high and insights can be gained by finding associated genes. Current genome-wide association studies (GWAS) have identified 10 to 20 loci in or near genes that generally were not expected to be associated with blood pressure or essential hypertension; more significant variants will be discovered when even larger and more refined studies become available. This article gives a short introduction to GWAS and summarizes the current findings for blood pressure and hypertension.
KeywordsBlood pressure Hypertension Genome-wide association study Genomics
Dr. Ehret receives partial funding for his work on blood pressure and hypertension though the “FEHGAS Study” (National Heart, Lung, And Blood Institute grant 5R01HL086694-02; Dr. Ehret has additional affiliations with the Cardiology Center, Geneva University Hospital, Geneva, and the Institute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, both in Switzerland. Dr. A. Chakravarti, Principal Investigator) and through a Special Program University Medicine (SPUM) grant funded by the Swiss National Science Foundation (Dr. M. Bochud, Principal Investigator).
No potential conflicts of interest relevant to this article were reported.
Papers of particular interest, published recently, have been highlighted as: • Of importance, •• Of major importance
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