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

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 fro...

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Veröffentlicht in:	Nature communications 2023-10, Vol.14 (1), p.6156-6156, Article 6156
Hauptverfasser:	Hartmann, Sylvia, Yasmeen, Summaira, Jacobs, Benjamin M., Denaxas, Spiros, Pirmohamed, Munir, Gamazon, Eric R., Caulfield, Mark J., Hemingway, Harry, Pietzner, Maik, Langenberg, Claudia
Format:	Artikel
Sprache:	eng
Schlagworte:	45/43 692/308/2056 692/308/575 692/4023 Adrenergic receptors Antidepressants Catecholamine Catecholamines Electronic health records Electronic medical records Gene expression Genes Genetic diversity Genetic variance Genome-wide association studies Genome-Wide Association Study Genomes Heritability Homeodomain Proteins Humanities and Social Sciences Humans Hypersensitivity Medical research multidisciplinary Pain - complications Raynaud Disease - complications Raynaud Disease - genetics Receptors, Adrenergic, alpha-2 - genetics Regions Risk Science Science (multidisciplinary) Transcription Factors - genetics Ulcer Ulcers Veins & arteries
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Zusammenfassung:	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
ISSN:	2041-1723 2041-1723
DOI:	10.1038/s41467-023-41876-5