@article{dccf5ee0020549e99467d94d37802e31,
title = "Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program",
abstract = "The current understanding of the genetic determinants of thoracic aortic aneurysms and dissections (TAAD) has largely been informed through studies of rare, Mendelian forms of disease. Here, we conducted a genome-wide association study (GWAS) of TAAD, testing ~25 million DNA sequence variants in 8,626 participants with and 453,043 participants without TAAD in the Million Veteran Program, with replication in an independent sample of 4,459 individuals with and 512,463 without TAAD from six cohorts. We identified 21 TAAD risk loci, 17 of which have not been previously reported. We leverage multiple downstream analytic methods to identify causal TAAD risk genes and cell types and provide human genetic evidence that TAAD is a non-atherosclerotic aortic disorder distinct from other forms of vascular disease. Our results demonstrate that the genetic architecture of TAAD mirrors that of other complex traits and that it is not solely inherited through protein-altering variants of large effect size.",
author = "{VA Million Veteran Program} and Derek Klarin and Poornima Devineni and Sendamarai, {Anoop K.} and Angueira, {Anthony R.} and Graham, {Sarah E.} and Shen, {Ying H.} and Levin, {Michael G.} and Pirruccello, {James P.} and Ida Surakka and Karnam, {Purushotham R.} and Tanmoy Roychowdhury and Yanming Li and Minxian Wang and Aragam, {Krishna G.} and Kaavya Paruchuri and Verena Zuber and Shakt, {Gabrielle E.} and Tsao, {Noah L.} and Judy, {Renae L.} and Vy, {Ha My T.} and Verma, {Shefali S.} and Rader, {Daniel J.} and Ron Do and Bavaria, {Joseph E.} and Nadkarni, {Girish N.} and Ritchie, {Marylyn D.} and Stephen Burgess and Guo, {Dong chuan} and Ellinor, {Patrick T.} and LeMaire, {Scott A.} and Milewicz, {Dianna M.} and Willer, {Cristen J.} and Pradeep Natarajan and Tsao, {Philip S.} and Saiju Pyarajan and Damrauer, {Scott M.}",
note = "Publisher Copyright: {\textcopyright} 2023, This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.",
year = "2023",
month = jul,
doi = "10.1038/s41588-023-01420-z",
language = "English",
volume = "55",
pages = "1106--1115",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "7",
}