ADRA2A and IRX1 are putative risk genes for Raynaud’s phenomenon

Sylvia Hartmann, Summaira Yasmeen, Benjamin M. Jacobs, Spiros Denaxas, Munir Pirmohamed, Eric R. Gamazon, Mark J. Caulfield, Harry Hemingway, Maik Pietzner () and Claudia Langenberg ()
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Sylvia Hartmann: Berlin Institute of Health at Charité—Universitätsmedizin Berlin
Summaira Yasmeen: Berlin Institute of Health at Charité—Universitätsmedizin Berlin
Benjamin M. Jacobs: Queen Mary University of London
Spiros Denaxas: University College London
Munir Pirmohamed: University Liverpool
Eric R. Gamazon: Vanderbilt University Medical Center
Mark J. Caulfield: Queen Mary University of London
Harry Hemingway: University College London
Maik Pietzner: Berlin Institute of Health at Charité—Universitätsmedizin Berlin
Claudia Langenberg: Berlin Institute of Health at Charité—Universitätsmedizin Berlin

Nature Communications, 2023, vol. 14, issue 1, 1-11

Abstract: Abstract Raynaud’s phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers, but despite its high reported heritability, no causal genes have been robustly identified. We conducted a genome-wide association study including 5,147 RP cases and 439,294 controls, based on diagnoses from electronic health records, and identified three unreported genomic regions associated with the risk of RP (p

Date: 2023
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DOI: 10.1038/s41467-023-41876-5

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