|(A;A)||1||tend to have higher vitamin D levels|
|(G;G)||1.25||tend to have lower vitamin D levels|
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 20541252]
[PMID 21431378] 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.
|Trait||Vitamin D insufficiency|
|Title||Common genetic determinants of vitamin D insufficiency: a genome-wide association study.|
|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 22583563] Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.
[PMID 22690899] Impaired Vitamin D Activation and Association with CYP24A1 Haplotypes in Differentiated Thyroid Carcinoma.
[PMID 22701574] 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 23734184] 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 22673963] Genome-wide association analysis of circulating vitamin D levels in children with asthma.
[PMID 22740028] 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 26448018] Variants in Vitamin D Binding Protein Gene Are Associated With Gestational Diabetes Mellitus
[PMID 27570856] Genetic influence on circulating vitamin D among Saudi Arabians.
[PMID 28253304] 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 30716477] No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma-a Mendelian Randomization Study.
[PMID 31625015] 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.