{{Rsnum
|rsid=731236
|Gene=VDR
|Chromosome=12
|position=47844974
|Orientation=minus
|ReferenceAllele=T
|GMAF=0.264
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=VDR
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 22.1 | 43.4 | 34.5
| HCB | 0.0 | 5.9 | 94.1
| JPT | 0.0 | 20.5 | 79.5
| YRI | 5.4 | 45.6 | 49.0
| ASW | 5.4 | 39.3 | 55.4
| CHB | 0.0 | 5.9 | 94.1
| CHD | 0.0 | 9.2 | 90.8
| GIH | 6.9 | 46.5 | 46.5
| LWK | 8.3 | 37.6 | 54.1
| MEX | 3.5 | 38.6 | 57.9
| MKK | 14.1 | 58.3 | 27.6
| TSI | 17.8 | 48.5 | 33.7
| HapMapRevision=28
}}{{PMID|19105801|OA=1
}} [[rs731236]] protection from [[breast cancer]] (OR=0.80, 95%CI=0.64-0.99; p= 0.047)

{{PMID Auto
|PMID=19383647
|Title=Past environmental sun exposure and risk of multiple sclerosis: a role for the Cdx-2 Vitamin D receptor variant in this interaction
}}

{{PMID Auto
|PMID=18587672
|Title=Vitamin D receptor variants and breast cancer risk in the Polish population
}}
{{PMID Auto
|PMID=19584489
|Title=Vitamin D receptor (FokI, BsmI and TaqI) gene polymorphisms and type 2 diabetes mellitus : A North Indian study
}}
{{PMID Auto
|PMID=19644412
|Title=Polymorphisms in the vitamin D receptor gene and risk of lung cancer
}}
{{PMID Auto
|PMID=19499989
|Title=Vitamin D receptor polymorphisms in differentiated thyroid carcinoma
}}
{{PMID Auto
|PMID=19734102
|Title=Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete, Greece
}}
{{PMID Auto
|PMID=19758194
|Title=Association study on two vitamin D receptor gene polymorphisms and vitamin D metabolites in multiple sclerosis
}}

{{PharmGKB
|RSID=rs731236
|Name_s=VDR: TaqI
|Gene_s=VDR
|Feature=
|Evidence=PubMed ID:19020788
|Annotation=This variant was significantly associated with acquired resistance to clodronate treatment in Caucasian patients with Paget's disease of the bone
|Drugs=clodronate
|Drug Classes=
|Diseases=Osteitis Deformans
|Curation Level=Curated
|PharmGKB Accession ID=PA164926305
}}

{{PharmGKB
|RSID=rs731236
|Name_s=VDR:TaqI
|Gene_s=VDR
|Feature=
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/vdr/variant.jsp#ImportantVariantInformationforVDR-rs3782905
|Annotation=Well studied, associated with several phenotypes
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145150
}}

{{PharmGKB
|RSID=rs731236
|Name_s=VDR:Taq1 T>t, NM_000376.2:c.1056T>C
|Gene_s=VDR
|Feature=
|Evidence=PubMed ID:19005482
|Annotation=Risk or phenotype-associated allele: T. Phenotype: VDR Taq1 genotype in the transplant recipient was associated with transplantation-related mortality and overall survival. Study size:107 . Study population/ethnicity: Donors and patients with leukemia after HLA-identical hematopoietic stem cell transplantation, France. Significance metric(s): p = 0.006 (mortality); p = 0.04 (survival). Type of association: CO
|Drugs=
|Drug Classes=
|Diseases=Transplantation
|Curation Level=Curated
|PharmGKB Accession ID=PA165282250
}}

{{PMID Auto
|PMID=21545713
|Title=Vitamin D receptor gene polymorphisms in multiple sclerosis patients in northwest Greece
|OA=1
}}

{{PMID Auto
|PMID=21816760
|Title=Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis
}}

{{PMID Auto
|PMID=22422157
|Title=Vitamin D receptor gene variability as a factor influencing bone mineral density in pediatric patients
}}

{{PMID Auto
|PMID=22213340
|Title=25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease
}}

{{PMID Auto
|PMID=22729058
|Title=Vitamin D receptor polymorphisms in colorectal cancer in New Zealand: an association study
}}

{{PMID Auto
|PMID=22576141
|Title=No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=15113403
|Title=Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
|OA=1
}}

{{PMID Auto
|PMID=15157284
|Title=Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=15651992
|Title=Variants in the vitamin D receptor gene and asthma.
|OA=1
}}

{{PMID Auto
|PMID=16279845
|Title=Vitamin D receptor polymorphisms are associated with Graves' disease in German and Polish but not in Serbian patients.
}}

{{PMID Auto
|PMID=16600026
|Title=Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
|OA=1
}}

{{PMID Auto
|PMID=16634022
|Title=Polymorphisms in the vitamin D receptor and their associations with risk of schizophrenia and selected anthropometric measures.
}}

{{PMID Auto
|PMID=16899094
|Title=The short vitamin D receptor is associated with increased risk for generalized aggressive periodontitis.
}}

{{PMID Auto
|PMID=17135034
|Title=Polymorphisms of the vitamin D receptor gene predict the onset of surgical menopause in Caucasian females.
}}

{{PMID Auto
|PMID=17244366
|Title=Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.
|OA=1
}}

{{PMID Auto
|PMID=17867381
|Title=Vitamin D receptor gene (VDR) associations with cancer.
|OA=1
}}

{{PMID Auto
|PMID=17903296
|Title=Genome-wide association with bone mass and geometry in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=17943423
|Title=Lack of association of VDR gene polymorphisms with thyroid autoimmune disorders: familial and case/control studies.
}}

{{PMID Auto
|PMID=18079052
|Title=Vitamin D receptor polymorphisms and risk of epithelial ovarian cancer.
|OA=1
}}

{{PMID Auto
|PMID=18086759
|Title=Vitamin D receptor gene polymorphisms and epithelial ovarian cancer risk.
}}

{{PMID Auto
|PMID=18086783
|Title=CDX2 VDR polymorphism and colorectal cancer.
|OA=1
}}

{{PMID Auto
|PMID=18161000
|Title=Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South Croatia.
}}

{{PMID Auto
|PMID=18205735
|Title=Association of vitamin D receptor gene polymorphisms in Chinese patients with generalized aggressive periodontitis.
}}

{{PMID Auto
|PMID=18246496
|Title=Vitamin D receptor polymorphisms and renal cancer risk in Central and Eastern Europe.
|OA=1
}}

{{PMID Auto
|PMID=18279374
|Title=Association of vitamin D receptor gene 3'-variants with Hashimoto's thyroiditis in the Croatian population.
}}

{{PMID Auto
|PMID=18316854
|Title=Analysis of vitamin D receptor gene polymorphisms in patients with chronic periodontitis.
}}

{{PMID Auto
|PMID=18361940
|Title=Lack of association of vitamin D receptor gene polymorphisms with susceptibility to type 1 diabetes mellitus in the Portuguese population.
}}

{{PMID Auto
|PMID=18419802
|Title=Vitamin D receptor gene polymorphisms and haplotypes and postmenopausal breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18628249
|Title=Association of vitamin D receptor gene variants, adiposity and colon cancer.
|OA=1
}}

{{PMID Auto
|PMID=18705810
|Title=Analysis of association of clinical aspects and vitamin D receptor gene polymorphism with dental implant loss.
}}

{{PMID Auto
|PMID=18849534
|Title=Association of genetic polymorphisms in vitamin D receptor gene and susceptibility to sporadic prostate cancer.
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=19255064
|Title=Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19454612
|Title=Vitamin D pathway gene variants and prostate cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19615888
|Title=Vitamin D receptor gene polymorphisms, serum 25-hydroxyvitamin D levels, and melanoma: UK case-control comparisons and a meta-analysis of published VDR data.
|OA=1
}}

{{PMID Auto
|PMID=19622139
|Title=Association study between vitamin D receptor gene polymorphisms and asthma in the Chinese Han population: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=19679055
|Title=Vitamin D receptor variants and the malignant melanoma risk: a population-based study.
}}

{{PMID Auto
|PMID=19682379
|Title=TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.
|OA=1
}}

{{PMID Auto
|PMID=19693091
|Title=Vitamin D receptor gene polymorphisms and distinct clinical phenotypes of hepatitis B carriers in Taiwan.
}}

{{PMID Auto
|PMID=19753122
|Title=Analysis of SNPs and haplotypes in vitamin D pathway genes and renal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19783860
|Title=A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy.
}}

{{PMID Auto
|PMID=19841454
|Title=Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture.
|OA=1
}}

{{PMID Auto
|PMID=19956101
|Title=Overview of the Rapid Response data.
|OA=1
}}

{{PMID Auto
|PMID=19956106
|Title=Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.
|OA=1
}}

{{PMID Auto
|PMID=19956109
|Title=The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.
|OA=1
}}

{{PMID Auto
|PMID=20006704
|Title=Lead and cognitive function in VDR genotypes in the third National Health and Nutrition Examination Survey.
}}

{{PMID Auto
|PMID=20009418
|Title=Matrix metalloproteinase-3 and vitamin d receptor genetic polymorphisms, and their interactions with occupational exposure in lumbar disc degeneration.
}}

{{PMID Auto
|PMID=20015871
|Title=Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia.
|OA=1
}}

{{PMID Auto
|PMID=20196868
|Title=Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=20585998
|Title=Variation in the vitamin D receptor gene is not associated with risk of colorectal cancer in the Czech Republic.
}}

{{PMID Auto
|PMID=20716226
|Title=Clinical and genetic predictors of response to narrowband ultraviolet B for the treatment of chronic plaque psoriasis.
}}

{{PMID Auto
|PMID=21076051
|Title=Vitamin D receptor genotypes, ultraviolet radiation exposure, and risk of non-Hodgkin lymphoma.
}}

{{PMID Auto
|PMID=21168462
|Title=Vitamin D receptor gene methylation is associated with ethnicity, tuberculosis, and TaqI polymorphism.
|OA=1
}}

{{PMID Auto
|PMID=21198767
|Title=BsmI, TaqI, ApaI, and FokI polymorphisms in the vitamin D receptor gene and periodontitis: a meta-analysis of 15 studies including 1338 cases and 1302 controls.
}}

{{PMID Auto
|PMID=21358824
|Title=Prostate cancer susceptibility Loci identified on chromosome 12 in African Americans.
|OA=1
}}

{{PMID Auto
|PMID=21664963
|Title=Vitamin D receptor (VDR) gene SNPs influence VDR expression and modulate protection from multiple sclerosis in HLA-DRB1*15-positive individuals.
}}

{{PMID Auto
|PMID=21814771
|Title=Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease.
}}

{{PMID Auto
|PMID=21818054
|Title=Common variation in the vitamin D receptor gene and risk of inflammatory bowel disease in an Irish case-control study.
}}

{{PMID Auto
|PMID=21951018
|Title=Lack of association of vitamin D receptor gene 3'-haplotypes with psoriasis in Croatian patients.
}}

{{PMID Auto
|PMID=22008758
|Title=SLC11A1 and VDR gene variants and susceptibility to tuberculosis and disease progression in East India.
}}

{{PMID Auto
|PMID=22151003
|Title=Combined effect of 25-OH vitamin D plasma levels and genetic vitamin D receptor (NR 1I1) variants on fibrosis progression rate in HCV patients.
}}

{{PMID Auto
|PMID=22170372
|Title=Vitamin D receptor and megalin gene polymorphisms and their associations with longitudinal cognitive change in US adults.
|OA=1
}}

{{PMID Auto
|PMID=22219324
|Title=Vitamin D receptor gene polymorphisms and HLA DRB1*04 cosegregation in Saudi type 2 diabetes patients.
}}

{{PMID Auto
|PMID=22311020
|Title=Evaluation of ERalpha and VDR gene polymorphisms in relation to bone mineral density in Turkish postmenopausal women.
}}

{{PMID Auto
|PMID=23034014
|Title=Association of vitamin D receptor gene polymorphisms with severe atopic dermatitis in adults
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs731236
|overall_frequency_n=3827
|overall_frequency_d=10756
|overall_frequency=0.355801
|n_genomes=23
|n_genomes_annotated=0
|n_haplomes=26
|n_articles=2
|n_articles_annotated=2
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=22681928
|Title=Vitamin D deficiency in girls from South Brazil: a cross-sectional study on prevalence and association with vitamin D receptor gene variants
|OA=1
}}

{{PMID Auto
|PMID=23639864
|Title=Otosclerosis and vitamin D receptor gene polymorphism
}}

{{PMID Auto
|PMID=23840333
|Title=Vitamin D3 Receptor ( VDR ) Gene rs2228570 (Fok1) and rs731236 (Taq1) Variants Are Not Associated with the Risk for Multiple Sclerosis: Results of a New Study and a Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=23841669
|Title=VDR gene polymorphisms, interaction with smoking, and risk of periodontal disease in Japanese women: the Kyushu Okinawa Maternal and Child Health Study
}}

{{PMID Auto
|PMID=23979900
|Title=Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women
}}

{{PMID Auto
|PMID=24073221
|Title=Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C
|OA=1
}}

{{PMID Auto
|PMID=24224838
|Title=Polymorphisms in the Vitamin D Receptor Gene and Risk of Primary Biliary Cirrhosis: a meta-analysis
}}

{{PMID Auto
|PMID=22522591
|Title=Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease.
}}

{{PMID Auto
|PMID=22551951
|Title=Allelic variations in the vitamin D receptor gene, insulin secretion and parents' heights are independently associated with height in obese children and adolescents.
}}

{{PMID Auto
|PMID=22740028
|Title=An exploratory analysis of common genetic variants in the vitamin D pathway including genome-wide associated variants in relation to glioma risk and outcome.
|OA=1
}}

{{PMID Auto
|PMID=22917542
|Title=Association of vitamin D receptor gene polymorphisms with clinical outcomes of dengue virus infection.
}}

{{PMID Auto
|PMID=22947263
|Title=Association study between vitamin d receptor gene polymorphisms and patients with Parkinson disease in Chinese Han population.
}}

{{PMID Auto
|PMID=23065277
|Title=Vitamin D receptor gene BsmI, FokI, ApaI and TaqI polymorphisms and the risk of systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=23065592
|Title=Polymorphisms in the vitamin D receptor gene and risk of autoimmune thyroid diseases: a meta-analysis.
}}

{{PMID Auto
|PMID=23070913
|Title=Association of vitamin D binding protein polymorphism with long-term kidney allograft survival in Hispanic kidney transplant recipients.
}}

{{PMID Auto
|PMID=23103831
|Title=VDR TaqI is associated with obesity in the Greek population.
}}

{{PMID Auto
|PMID=23300018
|Title=Vitamin D receptor genotype rs731236 (Taq1) and breast cancer prognosis.
}}

{{PMID Auto
|PMID=23459936
|Title=Exploring the genetic basis of chronic periodontitis: a genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=24853028
|Title=Association of vitamin D receptor gene polymorphism with the risk of systemic lupus erythematosus
}}

{{PMID Auto
|PMID=24894441
|Title=Significance of Vitamin D Receptor Gene Polymorphisms for Risk of Hepatocellular Carcinoma in Chronic Hepatitis C
}}

{{PMID Auto
|PMID=24927719
|Title=Interrelation between genotypes of the vitamin D receptor gene and serum sex hormone concentrations in the Polish elderly population: the PolSenior study
}}

{{PMID Auto
|PMID=24996287
|Title=Association of vitamin D receptor FokI and ApaI polymorphisms with lung cancer risk in Tunisian population
}}

{{PMID Auto
|PMID=25000366
|Title=Association of vitamin D receptor gene polymorphism with the urine calcium level in nephrolithiasis patients
}}

{{PMID Auto
|PMID=25227839
|Title=Association between Circulating Vitamin D, the Taq1 Vitamin D Receptor Gene Polymorphism and Colorectal Cancer Risk among Jordanians
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}