{{Rsnum
|rsid=2228570
|Gene=VDR
|Chromosome=12
|position=47879112
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.3466
|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 | 37.2 | 43.4 | 19.5
| HCB | 29.2 | 53.3 | 17.5
| JPT | 46.9 | 37.2 | 15.9
| YRI | 63.7 | 33.6 | 2.7
| ASW | 70.2 | 22.8 | 7.0
| CHB | 29.2 | 53.3 | 17.5
| CHD | 25.7 | 48.6 | 25.7
| GIH | 53.5 | 35.6 | 10.9
| LWK | 69.5 | 28.6 | 1.9
| MEX | 25.9 | 48.3 | 25.9
| MKK | 61.9 | 34.8 | 3.2
| TSI | 42.2 | 42.2 | 15.7
| HapMapRevision=28
}}Associated with [[periodontitis]] in a study of Chinese patients.{{PMID|18205735}}

{{PMID|19105801|OA=1
}} [[rs2228570]] aka [[rs10735810]] allele (A) observed for [[breast cancer]]  odds ratio (OR) of 1.26 

{{ neighbor
| rsid = 10735810
| distance = 1
}}
{{PMID Auto
|PMID=19563249
|Title=No Association Between Vitamin D Receptor Polymorphisms and Coronary Artery Disease in a Chinese 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=19706842
|Title=Vitamin D Receptor and Calcium Sensing Receptor Polymorphisms and the Risk of Colorectal Cancer in European Populations
}}

{{PharmGKB
|RSID=rs2228570
|Name_s=VDR:FokI
|Gene_s=VDR
|Feature=Start Codon
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/vdr/variant.jsp
|Annotation=Shortens protein by three amino acids; some association with cancer risk.
|Drugs=
|Drug Classes=
|Diseases=Neoplasms
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145145
}}
{{PMID Auto
|PMID=20473893
|Title=Vitamin D receptor rs2228570 polymorphism and invasive ovarian carcinoma risk: Pooled analysis in five studies within the Ovarian Cancer Association Consortium
|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=22729058
|Title=Vitamin D receptor polymorphisms in colorectal cancer in New Zealand: an association study
}}{{PMID|15113403|OA=1
}} Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.

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

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

{{PMID|15726497|OA=1
}} Gene-environment interaction effects on the development of immune responses in the 1st year of life.

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

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

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

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

{{PMID|16905557}} Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.

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

{{PMID|17280526}} Association of the VDR translation start site polymorphism and fracture risk in older women.

{{PMID|17366837|OA=1
}} Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

{{PMID|17694420|OA=1
}} IL6 genotypes and colon and rectal cancer.

{{PMID|17703412}} Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.

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

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

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

{{PMID|18059035|OA=1
}} Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions.

{{PMID|18062835|OA=1
}} Novel insight in the association between salmonellosis or campylobacteriosis and chronic illness, and the role of host genetics in susceptibility to these diseases.

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

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

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

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

{{PMID|18205531}} Vitamin D receptor gene haplotypes and susceptibility to HIV-1 infection in injection drug users.

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

{{PMID|18285546|OA=1
}} A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.

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

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

{{PMID|18587672}} Vitamin D receptor variants and breast cancer risk in the Polish population.

{{PMID|18593774|OA=1
}} Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.

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

{{PMID|18689381|OA=1
}} Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis.

{{PMID|18709640}} Modification of the inverse association between dietary vitamin D intake and colorectal cancer risk by a FokI variant supports a chemoprotective action of Vitamin D intake mediated through VDR binding.

{{PMID|18824104|OA=1
}} A novel SNP in a vitamin D response element of the CYP24A1 promoter reduces protein binding, transactivation, and gene expression.

{{PMID|18828731}} Vitamin D receptor gene polymorphisms have negligible effect on human height.

{{PMID|18936471|OA=1
}} Circulating 25-hydroxyvitamin D, VDR polymorphisms, and survival in advanced non-small-cell lung cancer.

{{PMID|18992263|OA=1
}} Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

{{PMID|19124512}} Vitamin D receptor polymorphisms and breast cancer risk: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium.

{{PMID|19131662|OA=1
}} A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

{{PMID|19178954}} Fok-I vitamin D receptor gene polymorphism (rs10735810) and vitamin D metabolism in multiple sclerosis.

{{PMID|19223536|OA=1
}} Polymorphisms in the vitamin D receptor and risk of ovarian cancer in four studies.

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

{{PMID|19263529|OA=1
}} Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

{{PMID|19286443}} Prevalence of vitamin D receptor gene polymorphisms FokI and BsmI in Brazilian individuals with type 1 diabetes and their relation to beta-cell autoimmunity and to remaining beta-cell function.

{{PMID|19330901|OA=1
}} Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

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

{{PMID|19450131|OA=1
}} Application of pharmacogenomics to vaccines.

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

{{PMID|19499989}} Vitamin D receptor polymorphisms in differentiated thyroid carcinoma.

{{PMID|19559392|OA=1
}} A candidate gene association study of 77 polymorphisms in migraine.

{{PMID|19587357|OA=1
}} A systematic meta-analysis of genetic association studies for diabetic retinopathy.

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

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

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

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

{{PMID|19734102}} Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete, Greece.

{{PMID|19758194}} Association study on two vitamin D receptor gene polymorphisms and vitamin D metabolites in multiple sclerosis.

{{PMID|19760020}} [The inhibitory effect of calcitriol on the proliferation of hPDLCs populations of different vitamin D receptor Fok I genotypes].

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

{{PMID|19852851|OA=1
}} Asthma and genes encoding components of the vitamin D pathway.

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

{{PMID|19956103|OA=1
}} Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes.

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

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

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

{{PMID|20363324}} A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations.

{{PMID|20432164|OA=1
}} Calcium, vitamin D, VDR genotypes, and epigenetic and genetic changes in rectal tumors.

{{PMID|20437058|OA=1
}} The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.

{{PMID|20572305|OA=1
}} Vitamin D receptor gene polymorphisms and hepatocellular carcinoma in alcoholic cirrhosis.

{{PMID|21198767}} 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|21358824|OA=1
}} Prostate cancer susceptibility Loci identified on chromosome 12 in African Americans.

{{PMID|21440908}} Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians.

{{PMID|21693626}} Vitamin D-related genetic variants, interactions with vitamin D exposure, and breast cancer risk among Caucasian women in Ontario.

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

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

{{PMID|21828234|OA=1
}} Common genetic variants in the vitamin D pathway including genome-wide associated variants are not associated with breast cancer risk among Chinese women.

{{PMID|21837802}} Confirmation of an association between single nucleotide polymorphisms in the VDR gene with respiratory syncytial virus related disease in South African children.

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

{{PMID|22193519}} Vitamin D receptor gene variants and clinical outcomes after androgen-deprivation therapy for prostate cancer.

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

{{PMID|22280097}} Plasma Levels of Vitamin D in HIV Patients Initiating Antiretroviral Therapy Do Not Predict Immune Restoration Disease Associated with Mycobacterium tuberculosis.

{{PMID|22311020}} 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
|gene=VDR
|aa_change=Met1Thr
|aa_change_short=M1T
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228570
|overall_frequency_n=7270
|overall_frequency_d=10758
|overall_frequency=0.675776
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=78
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=5
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.999
|genetests_testable=Y
|nblosum100=2
|autoscore=4
|webscore=N
|n_web_uneval=10
}}
{{PMID Auto
|PMID=23393347
|Title=Sunlight, Polymorphisms of Vitamin D-related Genes and Risk of Breast Cancer
|OA=1
}}
{{PMID Auto
|PMID=23298194
|Title=Epistatic study reveals two genetic interactions in blood pressure regulation
|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=24007655
|Title=Genetic variants in Vitamin D pathway in Egyptian asthmatic children: a pilot study
}}
{{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=24381141
|Title=Vitamin D receptor gene polymorphisms and esophageal cancer risk in a Chinese population: a negative study
}}{{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=22805623
|Title=Potential role of OPG/RANKL system and FokI genotypes in pathogenesis and clinical manifestations in multiple sclerosis.
}}

{{PMID Auto
|PMID=22859341
|Title=Vitamin D receptor polymorphism rs2228570 (Fok1) is associated with rheumatoid arthritis in North American natives.
}}

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

{{PMID Auto
|PMID=22960018
|Title=Investigation of the vitamin D receptor gene (VDR) and its interaction with protein tyrosine phosphatase, non-receptor type 2 gene (PTPN2) on risk of islet autoimmunity and type 1 diabetes: the Diabetes Autoimmunity Study in the Young (DAISY).
|OA=1
}}

{{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=23173643
|Title=Vitamin D receptor gene polymorphism and cardiovascular risk variables in elderly Polish subjects.
}}

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

{{PMID Auto
|PMID=23320576
|Title=Vitamin D receptor gene BsmI and FokI polymorphisms in relation to ovarian cancer risk in the Polish population.
|OA=1
}}

{{PMID Auto
|PMID=23416105
|Title=Vitamin D status and gene transcription in immune cells.
}}

{{PMID Auto
|PMID=23492909
|Title=Pharmacogenetics of CYP1A2 activity and inducibility in smokers and exsmokers.
}}
{{PMID Auto
|PMID=24853028
|Title=Association of vitamin D receptor gene polymorphism with the risk of systemic lupus erythematosus
}}
{{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=23923033
|Title=The association between plasma 25-hydroxyvitamin D and subgroups in age-related macular degeneration: a cross-sectional study
}}