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Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study

Author

Listed:
  • Alanna C Morrison
  • Joshua C Bis
  • Shih-Jen Hwang
  • Georg B Ehret
  • Thomas Lumley
  • Kenneth Rice
  • Donna Muzny
  • Richard A Gibbs
  • Eric Boerwinkle
  • Bruce M Psaty
  • Aravinda Chakravarti
  • Daniel Levy

Abstract

Background: Genome-wide association studies (GWAS) identified multiple loci for blood pressure (BP) and hypertension. Six genes – ATP2B1, CACNB2, CYP17A1, JAG1, PLEKHA7, and SH2B3 – were evaluated for sequence variation with large effects on systolic blood pressure (SBP), diastolic blood pressure (DBP), pulse pressure (PP), and mean arterial pressure (MAP). Methods and Results: Targeted genomic sequence was determined in 4,178 European ancestry participants from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Common variants (≥50 minor allele copies) were evaluated individually and rare variants (minor allele frequency, MAF≤1%) were aggregated by locus. 464 common variants were identified across the 6 genes. An upstream CYP17A1 variant, rs11191416 (MAF = 0.09), was the most significant association for SBP (P = 0.0005); however the association was attenuated (P = 0.0469) after conditioning on the GWAS index single nucleotide polymorphism (SNP). A PLEKHA7 intronic variant was the strongest DBP association (rs12806040, MAF = 0.007, P = 0.0006) and was not in LD (r2 = 0.01) with the GWAS SNP. A CACNB2 intronic SNP, rs1571787, was the most significant association with PP (MAF = 0.27, P = 0.0003), but was not independent from the GWAS SNP (r2 = 0.34). Three variants (rs6163 and rs743572 in the CYP17A1 region and rs112467382 in PLEKHA7) were associated with BP traits (P

Suggested Citation

  • Alanna C Morrison & Joshua C Bis & Shih-Jen Hwang & Georg B Ehret & Thomas Lumley & Kenneth Rice & Donna Muzny & Richard A Gibbs & Eric Boerwinkle & Bruce M Psaty & Aravinda Chakravarti & Daniel Levy, 2014. "Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study," PLOS ONE, Public Library of Science, vol. 9(10), pages 1-7, October.
  • Handle: RePEc:plo:pone00:0109155
    DOI: 10.1371/journal.pone.0109155
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    1. Elena Pallari & Grant Lewison, 2022. "Cardiovascular and cancer risk factors analysis for 2001–2020 from the global research output and European newspapers," Scientometrics, Springer;Akadémiai Kiadó, vol. 127(9), pages 5159-5174, September.

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