Association of Exome Sequences with Cardiovascular Traits among Blacks in the Jackson Heart Study
- Peloso, Gina M.
- Lange, Leslie A.
- Varga, Tibor V.
- Nickerson, Deborah A.
- Smith, Joshua D.
- Griswold, Michael E.
- Musani, Solomon
- Polfus, Linda M.
- Mei, Hao
- Gabriel, Stacey
- Quarells, Rakale Collins
- Altshuler, David
- Boerwinkle, Eric
- Daly, Mark J.
- Neale, Benjamin
- Correa, Adolfo
- Reiner, Alex P.
- Wilson, James G.
- Kathiresan, Sekar
DOIAbstract
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...
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