Document Detail


Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.
MedLine Citation:
PMID:  21045733     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: Genome-wide association meta-analyses have recently identified multiple loci associated with blood pressure. We sought to validate previously identified blood pressure loci by replication in a single large homogeneous population-based cohort and to identify new genome-wide significant loci using both conventional and expression-guided approaches.
METHODS: We examined the associations of 18 single-nucleotide polymorphisms (SNPs) with genome-wide significance (P < 5.0 × 10⁻⁸, 'primary'), and 13 suggestive SNPs (5.0 × 10⁻⁸ < P < 5.6 × 10⁻⁵, 'secondary'), all from previously established genome-wide association studies, with self-reported blood pressure in 23 019 women from the Women's Genome Health Study. We then targeted for replication 12 gene expression-associated SNPs (eSNPs) that were also previously associated with blood pressure phenotypes.
RESULTS: Using these replication strategies, we found confirmatory evidence for 13/18 primary SNPs, 3/13 secondary SNPs, and 4/12 eSNPs in the Women's Genome Health Study. Meta-analysis combining the Women's Genome Health Study results with prior study results revealed one previously unrecognized blood pressure locus with genome-wide significance: a BLK-GATA4-adjacent region (P = 3.2 × 10⁻⁸).
CONCLUSION: In this analysis, conventional and eSNP-guided strategies were complementary and illustrate two ways for extending initial genome-wide association results for discovery of new genes involved in human disease. Using this strategy, we report a newly identified blood pressure locus, BLK-GATA4, that may further understanding of the complex genetic pathways regulating blood pressure.
Authors:
Jennifer E Ho; Daniel Levy; Lynda Rose; Andrew D Johnson; Paul M Ridker; Daniel I Chasman
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Publication Detail:
Type:  Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Validation Studies    
Journal Detail:
Title:  Journal of hypertension     Volume:  29     ISSN:  1473-5598     ISO Abbreviation:  J. Hypertens.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2010-12-16     Completed Date:  2011-04-25     Revised Date:  2012-01-04    
Medline Journal Info:
Nlm Unique ID:  8306882     Medline TA:  J Hypertens     Country:  England    
Other Details:
Languages:  eng     Pagination:  62-9     Citation Subset:  IM    
Affiliation:
National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, USA.
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MeSH Terms
Descriptor/Qualifier:
Blood Pressure / genetics*
Female
Genome, Human*
Genome-Wide Association Study
Humans
Polymorphism, Single Nucleotide*
Women's Health*
Grant Support
ID/Acronym/Agency:
CA-047988/CA/NCI NIH HHS; HL-043851/HL/NHLBI NIH HHS; HL-69757/HL/NHLBI NIH HHS; N01-HC-25195/HC/NHLBI NIH HHS; Z01 HL006001-01/HL/NHLBI NIH HHS; Z01 HL006001-02/HL/NHLBI NIH HHS; ZIA HL006001-03/HL/NHLBI NIH HHS; ZIA HL006001-04/HL/NHLBI NIH HHS
Comments/Corrections
Comment In:
J Hypertens. 2011 Jan;29(1):32   [PMID:  21160361 ]

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