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From SNPedia

Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2228570(C;C)
Make rs2228570(C;T)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs2228570
1000 genomesrs2228570
GWAS Ctlgrs2228570
Merged fromRs10735810
Max Magnitude0

also known as the FokI polymorphism; be aware that findings often vary by race and ethnicity for this SNP

? (C;C) (C;T) (T;T) 28

Associated with periodontitis in a study of Chinese patients.[PMID 18205735]

[PMID 19105801OA-icon.png] rs2228570 aka rs10735810 allele (A) observed for breast cancer odds ratio (OR) of 1.26

[PMID 19563249] No Association Between Vitamin D Receptor Polymorphisms and Coronary Artery Disease in a Chinese Population

[PMID 19584489] Vitamin D receptor (FokI, BsmI and TaqI) gene polymorphisms and type 2 diabetes mellitus : A North Indian study

[PMID 19706842] Vitamin D Receptor and Calcium Sensing Receptor Polymorphisms and the Risk of Colorectal Cancer in European Populations

[PMID 20473893OA-icon.png] Vitamin D receptor rs2228570 polymorphism and invasive ovarian carcinoma risk: Pooled analysis in five studies within the Ovarian Cancer Association Consortium

[PMID 21816760] Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis

[PMID 22422157] Vitamin D receptor gene variability as a factor influencing bone mineral density in pediatric patients

[PMID 22729058] Vitamin D receptor polymorphisms in colorectal cancer in New Zealand: an association study[PMID 15113403OA-icon.png] 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 15157284OA-icon.png] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

[PMID 15651992OA-icon.png] Variants in the vitamin D receptor gene and asthma.

[PMID 15726497OA-icon.png] 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 16600026OA-icon.png] 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 17244366OA-icon.png] 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 17366837OA-icon.png] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

[PMID 17694420OA-icon.png] IL6 genotypes and colon and rectal cancer.

[PMID 17703412] Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.

[PMID 17867381OA-icon.png] Vitamin D receptor gene (VDR) associations with cancer.

[PMID 17903296OA-icon.png] 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 18059035OA-icon.png] Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions.

[PMID 18062835OA-icon.png] Novel insight in the association between salmonellosis or campylobacteriosis and chronic illness, and the role of host genetics in susceptibility to these diseases.

[PMID 18079052OA-icon.png] Vitamin D receptor polymorphisms and risk of epithelial ovarian cancer.

[PMID 18086759] Vitamin D receptor gene polymorphisms and epithelial ovarian cancer risk.

[PMID 18086783OA-icon.png] 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 18246496OA-icon.png] Vitamin D receptor polymorphisms and renal cancer risk in Central and Eastern Europe.

[PMID 18285546OA-icon.png] 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 18419802OA-icon.png] 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 18593774OA-icon.png] Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.

[PMID 18628249OA-icon.png] Association of vitamin D receptor gene variants, adiposity and colon cancer.

[PMID 18689381OA-icon.png] 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 18824104OA-icon.png] 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 18936471OA-icon.png] Circulating 25-hydroxyvitamin D, VDR polymorphisms, and survival in advanced non-small-cell lung cancer.

[PMID 18992263OA-icon.png] 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 19131662OA-icon.png] 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 19223536OA-icon.png] Polymorphisms in the vitamin D receptor and risk of ovarian cancer in four studies.

[PMID 19255064OA-icon.png] Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.

[PMID 19263529OA-icon.png] 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 19330901OA-icon.png] 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 19450131OA-icon.png] Application of pharmacogenomics to vaccines.

[PMID 19454612OA-icon.png] Vitamin D pathway gene variants and prostate cancer risk.

[PMID 19499989] Vitamin D receptor polymorphisms in differentiated thyroid carcinoma.

[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.

[PMID 19587357OA-icon.png] A systematic meta-analysis of genetic association studies for diabetic retinopathy.

[PMID 19615888OA-icon.png] 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 19622139OA-icon.png] 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 19682379OA-icon.png] 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 19852851OA-icon.png] Asthma and genes encoding components of the vitamin D pathway.

[PMID 19956101OA-icon.png] Overview of the Rapid Response data.

[PMID 19956103OA-icon.png] Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes.

[PMID 19956106OA-icon.png] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

[PMID 19956109OA-icon.png] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

[PMID 20196868OA-icon.png] 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 20432164OA-icon.png] Calcium, vitamin D, VDR genotypes, and epigenetic and genetic changes in rectal tumors.

[PMID 20437058OA-icon.png] The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.

[PMID 20572305OA-icon.png] 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 21358824OA-icon.png] 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 21828234OA-icon.png] 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 23034014] Association of vitamin D receptor gene polymorphisms with severe atopic dermatitis in adults

[PMID 23393347OA-icon.png] Sunlight, Polymorphisms of Vitamin D-related Genes and Risk of Breast Cancer

[PMID 23298194OA-icon.png] Epistatic study reveals two genetic interactions in blood pressure regulation

[PMID 23639864] Otosclerosis and vitamin D receptor gene polymorphism

[PMID 23840333OA-icon.png] 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

[PMID 23841669] VDR gene polymorphisms, interaction with smoking, and risk of periodontal disease in Japanese women: the Kyushu Okinawa Maternal and Child Health Study

[PMID 23979900] Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women

[PMID 24007655] Genetic variants in Vitamin D pathway in Egyptian asthmatic children: a pilot study

[PMID 24073221OA-icon.png] Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C

[PMID 24381141] Vitamin D receptor gene polymorphisms and esophageal cancer risk in a Chinese population: a negative study [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 22805623] Potential role of OPG/RANKL system and FokI genotypes in pathogenesis and clinical manifestations in multiple sclerosis.

[PMID 22859341] Vitamin D receptor polymorphism rs2228570 (Fok1) is associated with rheumatoid arthritis in North American natives.

[PMID 22917542] Association of vitamin D receptor gene polymorphisms with clinical outcomes of dengue virus infection.

[PMID 22960018OA-icon.png] 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).

[PMID 23065277OA-icon.png] Vitamin D receptor gene BsmI, FokI, ApaI and TaqI polymorphisms and the risk of systemic lupus erythematosus.

[PMID 23065592] Polymorphisms in the vitamin D receptor gene and risk of autoimmune thyroid diseases: a meta-analysis.

[PMID 23070913] Association of vitamin D binding protein polymorphism with long-term kidney allograft survival in Hispanic kidney transplant recipients.

[PMID 23173643] Vitamin D receptor gene polymorphism and cardiovascular risk variables in elderly Polish subjects.

[PMID 23300018] Vitamin D receptor genotype rs731236 (Taq1) and breast cancer prognosis.

[PMID 23320576OA-icon.png] Vitamin D receptor gene BsmI and FokI polymorphisms in relation to ovarian cancer risk in the Polish population.

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

[PMID 23492909] Pharmacogenetics of CYP1A2 activity and inducibility in smokers and exsmokers.

[PMID 24853028] Association of vitamin D receptor gene polymorphism with the risk of systemic lupus erythematosus

[PMID 24996287] Association of vitamin D receptor FokI and ApaI polymorphisms with lung cancer risk in Tunisian population

[PMID 25000366] Association of vitamin D receptor gene polymorphism with the urine calcium level in nephrolithiasis patients

[PMID 23923033OA-icon.png] The association between plasma 25-hydroxyvitamin D and subgroups in age-related macular degeneration: a cross-sectional study

[PMID 25671813OA-icon.png] Gender Differences in the VDR-FokI Polymorphism and Conventional Non-Genetic Risk Factors in Association with Lumbar Spine Pathologies in an Italian Case-Control Study

[PMID 25764158OA-icon.png] A Polymorphism at the Translation Start Site of the Vitamin D Receptor Gene Is Associated with the Response to Anti-Osteoporotic Therapy in Postmenopausal Women from Southern Italy

[PMID 25854779] Vitamin D Receptor Gene Polymorphism and the Risk of Multiple Sclerosis in South Eastern of Iran

[PMID 25890006] Association of Taq I, Fok I and Apa I polymorphisms in Vitamin D Receptor (VDR) gene with Leprosy

[PMID 25899017] Effects of vitamin D receptor gene polymorphism and clinical characteristics on risk of diabetic retinopathy in Han Chinese type 2 diabetes patients

[PMID 26040031] [Association of allelic polymorphisms of genes matrix Gla-protein system with ischemic atherothrombotic stroke]

[PMID 26131229OA-icon.png] Association of vitamin d receptor-a gene polymorphisms with coronary heart disease in Han Chinese

[PMID 26303648] Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk

[PMID 26453801] Vitamin D Receptor Genetic Polymorphism Is Significantly Associated with Risk of Type 2 Diabetes Mellitus in Chinese Han Population

[PMID 26517870OA-icon.png] Association between the BsmI Polymorphism in the Vitamin D Receptor Gene and Breast Cancer Risk: Results from a Pakistani Case-Control Study

[PMID 26593863] Genetic susceptibility to autoimmune thyroid diseases in a Chinese Han population: Role of vitamin D receptor gene polymorphisms [PMID 26632733OA-icon.png] Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population. [PMID 27570856OA-icon.png] Genetic influence on circulating vitamin D among Saudi Arabians.

[PMID 27683185] Association Between Single Gene Polymorphisms and Bone Biomarkers and Response to Calcium and Vitamin D Supplementation in Young Adults Undergoing Military Training.

[PMID 28216333] Vitamin D receptor gene polymorphisms, smoking, and risk of sporadic Parkinson's disease in Japan.

[PMID 28285414] A population association study of vitamin D receptor gene polymorphisms and haplotypes with the risk of systemic lupus erythematosus in a Chinese population.

[PMID 28384983OA-icon.png] Association Study of Vitamin D Receptor (VDR) - Related Genetic Polymorphisms and their Haplotypes with Chronic Periodontitis in Colombian Population.

Risk rs2228570(A;A) rs2228570(C;C) rs2228570(G;G)
Alt rs2228570(A;A) rs2228570(C;C) rs2228570(G;G)
Reference Rs2228570(T;T)
Significance Non-pathogenic
Disease Vitamin D-Dependent Rickets
Variation info
Gene VDR
CLNDBN Vitamin D-Dependent Rickets
Reversed 1
HGVS NC_000012.11:g.48272895A>G
CLNACC RCV000280730.1,

[PMID 29581796OA-icon.png] Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder.

[PMID 29926136] Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population.

[PMID 30119682OA-icon.png] Vitamin D receptor polymorphism rs2228570 is significantly associated with risk of dyslipidemia and serum LDL levels in Chinese Han population.

[PMID 30233789OA-icon.png] VDR and TNFSF11 polymorphisms are associated with osteoporosis in Thai patients.

[PMID 30309792] Association of SNP-SNP Interactions Between RANKL, OPG, CHI3L1, and VDR Genes With Breast Cancer Risk in Egyptian Women.

[PMID 30334169] Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions.

[PMID 30624097] Association of VDR and OPG gene polymorphism with osteoporosis risk in Chinese postmenopausal women.

[PMID 30963970] Association of Vitamin D Gene Polymorphisms and Bone Mineral Density in Healthy young Saudi Females.

[PMID 30968071] Association of Vitamin D Receptor Gene Polymorphisms with Chronic Periodontitis in a Population in Western Romania.

[PMID 31565578OA-icon.png] Genetic associations of vitamin D receptor polymorphisms with advanced liver fibrosis and response to pegylated interferon-based therapy in chronic hepatitis C.

[PMID 31640710OA-icon.png] DBP rs16846876 and rs12512631 polymorphisms are associated with progression to AIDS naïve HIV-infected patients: a retrospective study.

[PMID 31654764] Vitamin D Receptor Gene Polymorphism and susceptibility to Asthma: meta-analysis based on 17 case-control studies.

[PMID 31719947OA-icon.png] Vitamin D plasma concentration and vitamin D receptor genetic variants confer risk of asthma: A comparison study of Taiwanese and Mongolian populations.

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

[PMID 32236287] Association between vitamin D receptor gene polymorphisms (Fok I, Cdx-2) and bone mineral density in Slovak postmenopausal women.

[PMID 32952510OA-icon.png] TaqI and ApaI Variants of Vitamin D Receptor Gene Increase the Risk of Colorectal Cancer in a Saudi Population.

[PMID 33226370OA-icon.png] A systematic review and network meta-analysis of single nucleotide polymorphisms associated with pancreatic cancer risk.

[PMID 33453076] High-Dose Vitamin D During Pregnancy and Pathway Gene Polymorphisms in Prevention of Offspring Persistent Wheeze.

[PMID 33469344OA-icon.png] Association of Vitamin D Receptor Gene Polymorphisms with Metabolic Syndrome in Chinese Children.

[PMID 33554789] [A Case-Control Study on Receptor Gene Polymorphism and Risk Suffering from Adult Acute Leukemia in Fujian Area].

[PMID 33590380] Vitamin D Receptor (VDR) Gene Polymorphisms and Risk of Coronary Artery Disease (CAD): Systematic Review and Meta-analysis.