Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease
By
Julie E. Horowitz,
Jack A. Kosmicki,
Amy Damask,
Deepika Sharma,
Genevieve H. L. Roberts,
Anne E. Justice,
Nilanjana Banerjee,
Marie V. Coignet,
Ashish Yadav,
Joseph B Leader,
Anthony Marcketta,
Danny S. Park,
Rouel Lanche,
Evan Maxwell,
Spencer C. Knight,
Xiaodong Bai,
Harenda Guturu,
Dylan Sun,
Asher Baltzell,
Fabricio S. P. Kury,
Joshua D Backman,
Ahna R. Girshick,
Colm O'Dushlaine,
Shannon R. McCurdy,
Raghavendran Partha,
Adam J Mansfield,
David A Turissini,
Alexander H Li,
Miao Zhang,
Joelle Mbatchou,
Kyoko Watanabe,
Lauren Gurski,
Shane E McCarthy,
Hyun Min Kang,
Lee Dobbyn,
Eli Stahl,
Anurag Verma,
Giorgio Sirugo,
Regeneron Genetics Center,
Marylyn D. Ritchie,
Marcus Jones,
Suganthi Balasubramanian,
Katherine Siminovitch,
William J. Salerno,
Alan R. Shuldiner,
Daniel J Rader,
Tooraj Mirshahi,
Adam E Locke,
Jonathan Marchini,
John D Overton,
David J Carey,
Lukas Habegger,
Michael N Cantor,
Kristin A. Rand,
Eurie L. Hong,
Jeffrey G. Reid,
Catherine A Ball,
Aris Baras,
Goncalo R. Abecasis,
Manuel A. Ferreira
Posted 16 Dec 2020
medRxiv DOI: 10.1101/2020.12.14.20248176
SARS-CoV-2 enters host cells by binding angiotensin-converting enzyme 2 (ACE2). Through a genome-wide association study, we show that a rare variant (MAF = 0.3%, odds ratio 0.60, P=4.5x10-13) that down-regulates ACE2 expression reduces risk of COVID-19 disease, providing human genetics support for the hypothesis that ACE2 levels influence COVID-19 risk. Further, we show that common genetic variants define a risk score that predicts severe disease among COVID-19 cases.
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