Article
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.
American journal of human genetics - 3 Aug 2017
Manousaki Despoina, Dudding Tom, Haworth Simon, Hsu Yi-Hsiang, Liu Ching-Ti, Medina-Gómez Carolina, Voortman Trudy, van der Velde Nathalie, Melhus Håkan, Robinson-Cohen Cassianne, Cousminer Diana L, Nethander Maria, Vandenput Liesbeth, Noordam Raymond, Forgetta Vincenzo, Greenwood Celia M T, Biggs Mary L, Psaty Bruce M, Rotter Jerome I, Zemel Babette S, Mitchell Jonathan A, Taylor Bruce, Lorentzon Mattias, Karlsson Magnus, Jaddoe Vincent V W, Tiemeier Henning, Campos-Obando Natalia, Franco Oscar H, Utterlinden Andre G, Broer Linda, van Schoor Natasja M, Ham Annelies C, Ikram M Arfan, Karasik David, de Mutsert Renée, Rosendaal Frits R, den Heijer Martin, Wang Thomas J, Lind Lars, Orwoll Eric S, Mook-Kanamori Dennis O, Michaëlsson Karl, Kestenbaum Bryan, Ohlsson Claes, Mellström Dan, de Groot Lisette C P G M, Grant Struan F A, Kiel Douglas P, Zillikens M Carola, Rivadeneira Fernando, Sawcer Stephen, Timpson Nicholas J, Richards J Brent
Abstract excerpt
Vitamin D insufficiency is common, correctable, and influenced by genetic factors, and it has been associated with risk of several diseases. We sought to identify low-frequency genetic variants that strongly increase the risk of vitamin D insufficiency and tested their effect on risk of multiple sclerosis, a disease influenced by low vitamin D concentrations. We used whole-genome sequencing data from 2,619...
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