作者
Aldo Córdova-Palomera, Catherine Tcheandjieu, Jason A Fries, Paroma Varma, Vincent S Chen, Madalina Fiterau, Ke Xiao, Heliodoro Tejeda, Bernard D Keavney, Heather J Cordell, Yosuke Tanigawa, Guhan Venkataraman, Manuel A Rivas, Christopher Ré, Euan Ashley, James R Priest
发表日期
2020/12
期刊
Circulation: Genomic and Precision Medicine
卷号
13
期号
6
页码范围
e003014
出版商
Lippincott Williams & Wilkins
简介
Background
The aortic valve is an important determinant of cardiovascular physiology and anatomic location of common human diseases.
Methods
From a sample of 34 287 white British ancestry participants, we estimated functional aortic valve area by planimetry from prospectively obtained cardiac magnetic resonance imaging sequences of the aortic valve. Aortic valve area measurements were submitted to genome-wide association testing, followed by polygenic risk scoring and phenome-wide screening, to identify genetic comorbidities.
Results
A genome-wide association study of aortic valve area in these UK Biobank participants showed 3 significant associations, indexed by rs71190365 (chr13:50764607, DLEU1, P=1.8×10−9), rs35991305 (chr12:94191968, CRADD, P=3.4×10−8), and chr17:45013271:C:T (GOSR2, P=5.6×10−8). Replication on an independent set of 8145 unrelated European ancestry …
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A Córdova-Palomera, C Tcheandjieu, JA Fries… - Circulation: Genomic and Precision Medicine, 2020