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  • Peloso, Gina M.Helsinki University Central Hospital (author)

Association of Exome Sequences with Cardiovascular Traits among Blacks in the Jackson Heart Study

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • 2016
  • 7 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:ab83c6f8-688d-487e-b698-45796cad8029
  • https://lup.lub.lu.se/record/ab83c6f8-688d-487e-b698-45796cad8029URI
  • https://doi.org/10.1161/CIRCGENETICS.116.001410DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • Background-The correlation of null alleles with human phenotypes can provide insight into gene function in humans. In individuals of African ancestry, we set out to identify null and damaging missense variants, and test these variants for association with a range of cardiovascular phenotypes. Methods and Results-We performed whole-exome sequencing in 3223 black individuals from the Jackson Heart Study and found a total of 729 666 variant sites with minor allele frequency <5%, including 17 263 null variants and 49 929 missense variants predicted to be damaging by in silico algorithms. We tested null and damaging missense variants within each gene for association with 36 cardiovascular traits. We found 3 associations that met our prespecified level of significance (α=1.1×10-7). Null and damaging missense variants in PCSK9 were associated with 36 mg/dL lower low-density lipoprotein cholesterol (P=3×10-21). Three individuals in their 50s with complete PCSK9 deficiency (each compound heterozygote for PCSK9 p.Y142X and p.C679X) were identified, with one having a coronary artery calcification score in the 83rd percentile despite a low-density lipoprotein cholesterol of 32 mg/dL. A damaging missense variant in HBQ1 (p.G52A) was associated with a 2 pg/cell lower mean corpuscular hemoglobin (P=9×10-13) and rare damaging missense variants in VPS13A with higher red blood cell distribution width (P=9.9×10-8). Conclusions-A limited number of null/damaging alleles with a large effect on cardiovascular traits were detectable in ≈3000 black individuals.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Lange, Leslie A.University of North Carolina (author)
  • Varga, Tibor V.Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups(Swepub:lu)med-tv_ (author)
  • Nickerson, Deborah A.University of Washington (author)
  • Smith, Joshua D.University of Washington (author)
  • Griswold, Michael E.University of Mississippi Medical Center (author)
  • Musani, SolomonUniversity of Mississippi Medical Center (author)
  • Polfus, Linda M.University of Texas (author)
  • Mei, HaoUniversity of Mississippi Medical Center (author)
  • Gabriel, StaceyHelsinki University Central Hospital (author)
  • Quarells, Rakale CollinsMorehouse School of Medicine (author)
  • Altshuler, DavidHarvard University (author)
  • Boerwinkle, EricUniversity of Texas (author)
  • Daly, Mark J.Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups,Massachusetts General Hospital,Helsinki University Central Hospital(Swepub:lu)med-mkd (author)
  • Neale, BenjaminMassachusetts General Hospital (author)
  • Correa, AdolfoUniversity of Mississippi Medical Center (author)
  • Reiner, Alex P.University of Washington (author)
  • Wilson, James G.University of Mississippi Medical Center (author)
  • Kathiresan, SekarHarvard University (author)
  • Helsinki University Central HospitalUniversity of North Carolina (creator_code:org_t)

Related titles

  • In:Circulation: Cardiovascular Genetics9:4, s. 368-3741942-325X

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