Article
Rare variant contribution to the heritability of coronary artery disease.
Nature communications - 9 Oct 2024
Rocheleau Ghislain, Clarke Shoa L, Auguste Gaëlle, Hasbani Natalie R, Morrison Alanna C, Heath Adam S, Bielak Lawrence F, Iyer Kruthika R, Young Erica P, Stitziel Nathan O, Jun Goo, Laurie Cecelia, Broome Jai G, Khan Alyna T, Arnett Donna K, Becker Lewis C, Bis Joshua C, Boerwinkle Eric, Bowden Donald W, Carson April P, Ellinor Patrick T, Fornage Myriam, Franceschini Nora, Freedman Barry I, Heard-Costa Nancy L, Hou Lifang, Chen Yii-Der Ida, Kenny Eimear E, Kooperberg Charles, Kral Brian G, Loos Ruth J F, Lutz Sharon M, Manson JoAnn E, Martin Lisa W, Mitchell Braxton D, Nassir Rami, Palmer Nicholette D, Post Wendy S, Preuss Michael H, Psaty Bruce M, Raffield Laura M, Regan Elizabeth A, Rich Stephen S, Smith Jennifer A, Taylor Kent D, Yanek Lisa R, Young Kendra A, Hilliard Austin T, Tcheandjieu Catherine, Peyser Patricia A, Vasan Ramachandran S, Rotter Jerome I, Miller Clint L, Assimes Themistocles L, de Vries Paul S, Do Ron
Abstract excerpt
Whole genome sequences (WGS) enable discovery of rare variants which may contribute to missing heritability of coronary artery disease (CAD). To measure their contribution, we apply the GREML-LDMS-I approach to WGS of 4949 cases and 17,494 controls of European ancestry from the NHLBI TOPMed program. We estimate CAD heritability at 34.3% assuming a prevalence of 8.2%. Ultra-rare (minor allele frequency ≤ 0.1%)...
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