Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

Manousaki D, Dudding T, Haworth S, Hsu YH, Liu CT, Medina-Gómez C, Voortman T, van der Velde N, Melhus H, Robinson-Cohen C, Cousminer DL, Nethander M, Vandenput L, Noordam R, Forgetta V, Greenwood CMT, Biggs ML, Psaty BM, Rotter JI, Zemel BS, Mitchell JA, Taylor B, Lorentzon M, Karlsson M, Jaddoe VVW, Tiemeier H, Campos-Obando N, Franco OH, Utterlinden AG, Broer L, van Schoor NM, Ham AC, Ikram MA, Karasik D, de Mutsert R, Rosendaal FR, den Heijer M, Wang TJ, Lind L, Orwoll ES, Mook-Kanamori DO, Michaëlsson K, Kestenbaum B, Ohlsson C, Mellström D, de Groot LCPGM, Grant SFA, Kiel DP, Zillikens MC, Rivadeneira F, Sawcer S, Timpson NJ, Richards JB
Am J Hum Genet. 2017 101 (2): 227-238

PMID: 28757204 · PMCID: PMC5544392 · DOI:10.1016/j.ajhg.2017.06.014

MeSH Terms (12)

Cholestanetriol 26-Monooxygenase Cytochrome P450 Family 2 Gene Frequency Genetic Predisposition to Disease Genome, Human Genome-Wide Association Study Humans Multiple Sclerosis Polymorphism, Single Nucleotide Risk Factors Vitamin D Vitamin D Deficiency

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