|(A;A)||2||Increased risk of low bone mineral density disorders|
|(A;G)||Intermediate risk of low bone mineral density disorders|
|(G;G)||2||Decreased risk of low bone mineral density disorders|
rs1544410, also known as the BsmI polymorphism, is a SNP in the Vitamin D receptor (VDR). Multiple studies examining bone mineral density (BMD) in women have associated the A allele with increased risk of low BMD [PMID 8845602], [PMID 22193625], & [PMID 23700563]. Additionally, A meta-analysis of 26 studies estimated a decreased risk of osteoporosis associated with the G;G genotype with an odds ratio of 0.61, 95% CI, 0.40-0.92 [PMID 23134477].
|On GW 5.0||0|
|Odds Ratio Het|
|Odds Ratio Hom|
|Odds Ratio All||-|
|Disease||Shorter stature (ST-S)|
rs1544410 increases susceptibility to Shorter stature for carriers of the A allele [PMID 10770213]
[PMID 18587672] Vitamin D receptor variants and breast cancer risk in the Polish population
[PMID 19557980] Parathyroid hormone gene variant and calcific aortic stenosis
[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 19644412] Polymorphisms in the vitamin D receptor gene and risk of lung cancer
[PMID 19499989] Vitamin D receptor polymorphisms in differentiated thyroid carcinoma
[PMID 19706842] Vitamin D Receptor and Calcium Sensing Receptor Polymorphisms and the Risk of Colorectal Cancer in European Populations
[PMID 19734102] Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete, Greece
[PMID 20642435] Immunophenotype Of Vitamin D Receptor Polymorphism Associated to Risk of HIV-1 Infection and Rate of Disease Progression
[PMID 21545713] Vitamin D receptor gene polymorphisms in multiple sclerosis patients in northwest Greece
[PMID 22004974] Vitamin D receptor gene BsmI polymorphisms B allele, but not BB genotype, is associated with systemic lupus erythematosus in a Han Chinese population
[PMID 22422157] Vitamin D receptor gene variability as a factor influencing bone mineral density in pediatric patients
[PMID 21365644] Vitamin D receptor polymorphisms in patients with cutaneous melanoma
[PMID 22213340] 25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease
[PMID 22551951] Allelic variations in the vitamin D receptor gene, insulin secretion and parents' heights are independently associated with height in obese children and adolescents.
[PMID 15113403] 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] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
[PMID 15651992] Variants in the vitamin D receptor gene and asthma.
[PMID 15726497] 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] 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 17135034] Polymorphisms of the vitamin D receptor gene predict the onset of surgical menopause in Caucasian females.
[PMID 17244366] Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.
[PMID 17705862] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
[PMID 17867381] Vitamin D receptor gene (VDR) associations with cancer.
[PMID 17903296] 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 18079052] Vitamin D receptor polymorphisms and risk of epithelial ovarian cancer.
[PMID 18086759] Vitamin D receptor gene polymorphisms and epithelial ovarian cancer risk.
[PMID 18086783] 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 18182569] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.
[PMID 18205531] Vitamin D receptor gene haplotypes and susceptibility to HIV-1 infection in injection drug users.
[PMID 18205735] Association of vitamin D receptor gene polymorphisms in Chinese patients with generalized aggressive periodontitis.
[PMID 18246496] Vitamin D receptor polymorphisms and renal cancer risk in Central and Eastern Europe.
[PMID 18279374] Association of vitamin D receptor gene 3'-variants with Hashimoto's thyroiditis in the Croatian population.
[PMID 18316854] Analysis of vitamin D receptor gene polymorphisms in patients with chronic periodontitis.
[PMID 18361940] Lack of association of vitamin D receptor gene polymorphisms with susceptibility to type 1 diabetes mellitus in the Portuguese population.
[PMID 18556337] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).
[PMID 18593774] Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.
[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 18828731] Vitamin D receptor gene polymorphisms have negligible effect on human height.
[PMID 18849534] Association of genetic polymorphisms in vitamin D receptor gene and susceptibility to sporadic prostate cancer.
[PMID 18936471] Circulating 25-hydroxyvitamin D, VDR polymorphisms, and survival in advanced non-small-cell lung cancer.
[PMID 18992148] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
[PMID 18992263] 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] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19223536] Polymorphisms in the vitamin D receptor and risk of ovarian cancer in four studies.
[PMID 19255064] Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19450131] Application of pharmacogenomics to vaccines.
[PMID 19454612] Vitamin D pathway gene variants and prostate cancer risk.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 19615888] 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] 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] TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.
[PMID 19693091] Vitamin D receptor gene polymorphisms and distinct clinical phenotypes of hepatitis B carriers in Taiwan.
[PMID 19753122] Analysis of SNPs and haplotypes in vitamin D pathway genes and renal cancer risk.
[PMID 19783860] A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy.
[PMID 19841454] Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture.
[PMID 19852851] Asthma and genes encoding components of the vitamin D pathway.
[PMID 19956101] Overview of the Rapid Response data.
[PMID 19956109] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.
[PMID 20015871] Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20361340] Polymorphism in vitamin D receptor is associated with bone mineral density in patients with adolescent idiopathic scoliosis.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 20572305] Vitamin D receptor gene polymorphisms and hepatocellular carcinoma in alcoholic cirrhosis.
[PMID 20585998] Variation in the vitamin D receptor gene is not associated with risk of colorectal cancer in the Czech Republic.
[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 21818054] Common variation in the vitamin D receptor gene and risk of inflammatory bowel disease in an Irish case-control study.
[PMID 21828234] Common genetic variants in the vitamin D pathway including genome-wide associated variants are not associated with breast cancer risk among Chinese women.
[PMID 21951018] Lack of association of vitamin D receptor gene 3'-haplotypes with psoriasis in Croatian patients.
[PMID 22008758] SLC11A1 and VDR gene variants and susceptibility to tuberculosis and disease progression in East India.
[PMID 22151003] 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 22170372] Vitamin D receptor and megalin gene polymorphisms and their associations with longitudinal cognitive change in US adults.
[PMID 22193519] Vitamin D receptor gene variants and clinical outcomes after androgen-deprivation therapy for prostate cancer.
[PMID 22193625] Association between vitamin D receptor gene polymorphisms and bone mineral density in Chinese women.
[PMID 22219324] Vitamin D receptor gene polymorphisms and HLA DRB1*04 cosegregation in Saudi type 2 diabetes patients.
[PMID 22390397] Associations between polymorphisms related to calcium metabolism and human height: the Tromso Study.
[PMID 23034014] Association of vitamin D receptor gene polymorphisms with severe atopic dermatitis in adults
[PMID 23134477] Vitamin D Receptor BsmI Polymorphism and Osteoporosis Risk: A Meta-Analysis from 26 Studies
[PMID 23173643] Vitamin D receptor gene polymorphism and cardiovascular risk variables in elderly Polish subjects
[PMID 22681928] Vitamin D deficiency in girls from South Brazil: a cross-sectional study on prevalence and association with vitamin D receptor gene variants
[PMID 23393347] Sunlight, Polymorphisms of Vitamin D-related Genes and Risk of Breast Cancer
[PMID 23639864] Otosclerosis and vitamin D receptor gene polymorphism
[PMID 23700563] Association between Vitamin D Receptor Gene BsmI Polymorphism and Bone Mineral Density in A Population of 146 Iranian Women
[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 23883686] Factors Associated with Vitamin D Deficiency in European Adolescents: The HELENA Study
[PMID 23979900] Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women
[PMID 24073221] Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C
[PMID 24158768] Vitamin D receptor BsmI polymorphism modulates soy intake and 25-hydroxyvitamin D supplementation benefits in cardiovascular disease risk factors profile
[PMID 24224838] Polymorphisms in the Vitamin D Receptor Gene and Risk of Primary Biliary Cirrhosis: a meta-analysis
[PMID 22466227] Genotoxic effects of occupational exposure to lead and influence of polymorphisms in genes involved in lead toxicokinetics and in DNA repair.
[PMID 22484315] Intestinal CYP3A4 and midazolam disposition in vivo associate with VDR polymorphisms and show seasonal variation.
[PMID 22522591] Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease.
[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 22917542] Association of vitamin D receptor gene polymorphisms with clinical outcomes of dengue virus infection.
[PMID 22960018] 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 23065277] 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 23320576] Vitamin D receptor gene BsmI and FokI polymorphisms in relation to ovarian cancer risk in the Polish population.
[PMID 23459936] Exploring the genetic basis of chronic periodontitis: a genome-wide association study.
[PMID 24853028] Association of vitamin D receptor gene polymorphism with the risk of systemic lupus erythematosus
[PMID 24894441] Significance of Vitamin D Receptor Gene Polymorphisms for Risk of Hepatocellular Carcinoma in Chronic Hepatitis C
[PMID 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification
[PMID 24918970] Association of vitamin D receptor BsmI (rs1544410) gene polymorphism with the chronic kidney disease susceptibility
[PMID 24927719] Interrelation between genotypes of the vitamin D receptor gene and serum sex hormone concentrations in the Polish elderly population: the PolSenior study
[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 25007156] Association of vitamin D receptor BsmI (rs1544410) gene polymorphism with the intact parathyroid hormone (iPTH) level among patients with end-stage renal disease
[PMID 25245883] Single nucleotide polymorphisms of vitamin D binding protein, vitamin D receptor and retinoid X receptor alpha genes and response to hepatitis B vaccination in renal replacement therapy patients
[PMID 25689036] Expression of CYP3A4 and CYP3A7 in Human Foetal Tissues and its Correlation to Nuclear Receptors
[PMID 25750310] Vitamin D Receptor Genetic Polymorphisms Are Associated with PSA Level, Gleason Score and Prostate Cancer Risk in African-American Men
[PMID 25764158] 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 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 26093050] Vitamin D receptor gene polymorphisms in Alzheimer's disease patients
[PMID 26517870] Association between the BsmI Polymorphism in the Vitamin D Receptor Gene and Breast Cancer Risk: Results from a Pakistani Case-Control Study
[PMID 26521212] Vitamin D receptor polymorphisms and survival in patients with cutaneous melanoma: A population-based study
[PMID 26593863] Genetic susceptibility to autoimmune thyroid diseases in a Chinese Han population: Role of vitamin D receptor gene polymorphisms
[PMID 27149110] BsmI, ApaI and TaqI Polymorphisms in the Vitamin D Receptor Gene (VDR) and Association with Lumbar Spine Pathologies: An Italian Case-Control Study.
[PMID 27570856] Genetic influence on circulating vitamin D among Saudi Arabians.
[PMID 27669215] Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk.
[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 27797792] Vitamin D receptor polymorphisms and survival in patients with cutaneous melanoma: A population-based study.
[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 28385183] Vitamin D receptor gene polymorphisms are associated with multiple sclerosis in Mexican adults.
[PMID 28384983] Association Study of Vitamin D Receptor (VDR) - Related Genetic Polymorphisms and their Haplotypes with Chronic Periodontitis in Colombian Population.
[PMID 28617856] The associations between VDR BsmI polymorphisms and risk of vitamin D deficiency, obesity and insulin resistance in adolescents residing in a tropical country.
[PMID 28868946] Vitamin D receptor gene polymorphisms and risk of polycystic ovary syndrome in South Indian women.
[PMID 29409002] PTPN22 and CTLA-4 Polymorphisms are Associated with Polyglandular Autoimmunity.
[PMID 29581796] Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder.
[PMID 29738868] BSMI single nucleotide polymorphism in vitamin D receptor gene is associated with decreased circulatory levels of serum 25-hydroxyvitamin D among micro and macrovascular complications of type 2 diabetes mellitus.
[PMID 29926136] Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population.
[PMID 30233789] 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 28990310] The interaction between vitamin D receptor polymorphisms and sun exposure around time of diagnosis influences melanoma survival.
[PMID 30968071] Association of Vitamin D Receptor Gene Polymorphisms with Chronic Periodontitis in a Population in Western Romania.
[PMID 31359379] Vitamin D-binding protein and vitamin D receptor genotypes and 25-hydroxyvitamin D levels are associated with development of aortic and mitral valve calcification and coronary artery diseases.
[PMID 31565578] Genetic associations of vitamin D receptor polymorphisms with advanced liver fibrosis and response to pegylated interferon-based therapy in chronic hepatitis C.