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Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

TitleAssociation of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.
Publication TypeJournal Article
Year of Publication2016
AuthorsPeloso GM, Lange LA, Varga TV, Nickerson DA, Smith JD, Griswold ME, Musani S, Polfus LM, Mei H, Gabriel S, Quarells RCollins, Altshuler D, Boerwinkle E, Daly MJ, Neale B, Correa A, Reiner AP, Wilson JG
Secondary AuthorsKathiresan S
JournalCirc Cardiovasc Genet
Volume9
Issue4
Pagination368-74
Date Published2016 Aug
ISSN1942-3268
KeywordsAdipokines, Adult, African Americans, Aged, Aged, 80 and over, Algorithms, Biomarkers, Cardiovascular Diseases, Computational Biology, Computer Simulation, Databases, Genetic, Exome, Female, Gene Frequency, Genetic Association Studies, Genetic Markers, Genetic Predisposition to Disease, Humans, Inflammation Mediators, Lipids, Longitudinal Studies, Male, Middle Aged, Mississippi, Mutation, Missense, Phenotype, Proprotein Convertase 9, Quantitative Trait, Heritable, Risk Factors
Abstract

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

CONCLUSIONS: A limited number of null/damaging alleles with a large effect on cardiovascular traits were detectable in ≈3000 black individuals.
DOI10.1161/CIRCGENETICS.116.001410
Alternate JournalCirc Cardiovasc Genet
PubMed ID27422940
PubMed Central IDPMC4988917
Grant ListR01 HL107816 / HL / NHLBI NIH HHS / United States
RC4 MD005964 / MD / NIMHD NIH HHS / United States
HHSN268201300048C / HL / NHLBI NIH HHS / United States
K01 HL125751 / HL / NHLBI NIH HHS / United States
HHSN268201300049C / HL / NHLBI NIH HHS / United States
HHSN268201300047C / HL / NHLBI NIH HHS / United States
HHSN268201300050C / HL / NHLBI NIH HHS / United States
HHSN268201300046C / HL / NHLBI NIH HHS / United States