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From SNPedia

Geno Mag Summary
(A;A) 1 tend to have higher vitamin D levels
(G;G) 1.25 tend to have lower vitamin D levels
Make rs10741657(A;G)
ReferenceGRCh38 38.1/141
GeneCYP2R1, LOC107984314
is asnp
is mentioned by
dbSNP (classic)rs10741657
1000 genomesrs10741657
GWAS Ctlgrs10741657
Max Magnitude1.25
? (A;A) (A;G) (G;G) 28

rs10741657, located near the cytochrome P450, family 2, subfamily R, polypeptide 1 CYP2R1 gene on chromosome 11p15, has been linked by several studies to vitamin D serum concentrations.

In both studies, the allele associated with lower vitamin D, and thus the potential for vitamin D insufficiency, is rs10741657(G). Carriers of two such alleles have lower vitamin D than carriers of one allele, who in turn on average have lower vitamin D levels than rs10741657(A;A) individuals.[PMID 20541252OA-icon.png]

[PMID 21431378OA-icon.png] The 'A' allele of CYP2R1 rs10741657 was associated with increased 25(OH)D levels in a study of vitamin D levels and MS risk in 1,655 cases and 6,349 controls.

GWAS snp
PMID [PMID 20541252OA-icon.png]
Trait Vitamin D insufficiency
Title Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
Risk Allele
P-val 3E-20
Odds Ratio None None

[PMID 17607662] CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans.

[PMID 19783860] A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy.

[PMID 22559001] Impaired Vitamin D activation and association with CYP24A1 haplotypes in differentiated thyroid carcinoma.

[PMID 22583563OA-icon.png] Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.

[PMID 22690899OA-icon.png] Impaired Vitamin D Activation and Association with CYP24A1 Haplotypes in Differentiated Thyroid Carcinoma.

[PMID 22701574OA-icon.png] Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis

[PMID 23416105] Vitamin D status and gene transcription in immune cells

[PMID 23734184OA-icon.png] Genetic Analyses Reveal a Role for Vitamin D Insufficiency in HCV-Associated Hepatocellular Carcinoma Development

[PMID 23924835] Genetic variant in vitamin D binding protein is associated with serum 25-hydroxyvitamin D and vitamin D insufficiency in southern Chinese [PMID 22673963OA-icon.png] Genome-wide association analysis of circulating vitamin D levels in children with asthma.

[PMID 22740028OA-icon.png] An exploratory analysis of common genetic variants in the vitamin D pathway including genome-wide associated variants in relation to glioma risk and outcome.

[PMID 22801813] The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children.

[PMID 23319826] Vitamin D and mortality: a Mendelian randomization study.

[PMID 23730842] Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients.

[PMID 23793229] Association of common gene variants in vitamin D modulating genes and colon cancer recurrence.

[PMID 25003556] Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and rs12794714), 25-hydroxyvitamin d levels, and coronary artery disease incidence

[PMID 25527766] Common variants in CYP2R1 and GC genes are both determinants of serum 25-hydroxyvitamin D concentrations after UVB irradiation and after consumption of vitamin D₃-fortified bread and milk during winter in Denmark

[PMID 26383826] Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients

[PMID 26448018OA-icon.png] Variants in Vitamin D Binding Protein Gene Are Associated With Gestational Diabetes Mellitus

[PMID 27570856OA-icon.png] Genetic influence on circulating vitamin D among Saudi Arabians.

[PMID 28253304OA-icon.png] Bone mineral density is associated with vitamin D related rs6013897 and estrogen receptor polymorphism rs4870044: The Tromsø study.

[PMID 29528271] Genetic polymorphisms of vitamin D3 metabolizing CYP24A1 and CYP2R1 enzymes in Turkish patients with ischemic stroke.

[PMID 30716477OA-icon.png] No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma-a Mendelian Randomization Study.

[PMID 31625015OA-icon.png] Genetic Polymorphisms in the Vitamin D Pathway and Non-small Cell Lung Cancer Survival.

[PMID 31959263] Vitamin D related genes and cardiometabolic markers in healthy children: a Mendelian randomization study.