Genome-wide association study of blood pressure and hypertension

Nat Genet. 2009 Jun;41(6):677-87. doi: 10.1038/ng.384. Epub 2009 May 10.


Blood pressure is a major cardiovascular disease risk factor. To date, few variants associated with interindividual blood pressure variation have been identified and replicated. Here we report results of a genome-wide association study of systolic (SBP) and diastolic (DBP) blood pressure and hypertension in the CHARGE Consortium (n = 29,136), identifying 13 SNPs for SBP, 20 for DBP and 10 for hypertension at P < 4 × 10(-7). The top ten loci for SBP and DBP were incorporated into a risk score; mean BP and prevalence of hypertension increased in relation to the number of risk alleles carried. When ten CHARGE SNPs for each trait were included in a joint meta-analysis with the Global BPgen Consortium (n = 34,433), four CHARGE loci attained genome-wide significance (P < 5 × 10(-8)) for SBP (ATP2B1, CYP17A1, PLEKHA7, SH2B3), six for DBP (ATP2B1, CACNB2, CSK-ULK3, SH2B3, TBX3-TBX5, ULK4) and one for hypertension (ATP2B1). Identifying genes associated with blood pressure advances our understanding of blood pressure regulation and highlights potential drug targets for the prevention or treatment of hypertension.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Pressure / genetics*
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human / genetics
  • Diastole / genetics
  • Gene Expression Regulation
  • Genetic Association Studies*
  • Genome-Wide Association Study*
  • Humans
  • Hypertension / epidemiology
  • Hypertension / genetics*
  • Liver / physiology
  • Liver / physiopathology
  • Lymphocytes / physiology
  • Meta-Analysis as Topic
  • Odds Ratio
  • Phenotype
  • Prevalence
  • Risk Assessment
  • Systole / genetics

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