Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm.

doi:10.1016/j.ajhg.2021.06.016

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Article

Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm.

American journal of human genetics - 2 Sept 2021

Roychowdhury Tanmoy, Lu Haocheng, Hornsby Whitney E, Crone Bradley, Wang Gao T, Guo Dong-Chuan, Sendamarai Anoop K, Devineni Poornima, Lin Maoxuan, Zhou Wei, Graham Sarah E, Wolford Brooke N, Surakka Ida, Wang Zhenguo, Chang Lin, Zhang Jifeng, Mathis Michael, Brummett Chad M, Melendez Tori L, Shea Michael J, Kim Karen Meekyong, Deeb G Michael, Patel Himanshu J, Eliason Jonathan, Eagle Kim A, Yang Bo, Ganesh Santhi K, Brumpton Ben, Åsvold Bjørn Olav, Skogholt Anne Heidi, Hveem Kristian, Pyarajan Saiju, Klarin Derek, Tsao Philip S, Damrauer Scott M, Leal Suzanne M, Milewicz Dianna M, Chen Y Eugene, Garcia-Barrio Minerva T, Willer Cristen J

Abstract excerpt

Thoracic aortic aneurysm (TAA) is characterized by dilation of the aortic root or ascending/descending aorta. TAA is a heritable disease that can be potentially life threatening. While 10%-20% of TAA cases are caused by rare, pathogenic variants in single genes, the origin of the majority of TAA cases remains unknown. A previous study implicated common variants in FBN1 with TAA disease risk. Here, we report a...

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PMID: 34265237
DOI: 10.1016/j.ajhg.2021.06.016
PMCID: PMC8456156

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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