rs1544410

minus

Geno	Mag	Summary
(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

Reference

GRCh38 38.1/142

Chromosome

12

Position

47846052

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs1544410
dbSNP (classic)	rs1544410
ClinGen	rs1544410
ebi	rs1544410
HLI	rs1544410
Exac	rs1544410
Gnomad	rs1544410
Varsome	rs1544410
LitVar	rs1544410
Map	rs1544410
PheGenI	rs1544410
Biobank	rs1544410
1000 genomes	rs1544410
hgdp	rs1544410
ensembl	rs1544410
geneview	rs1544410
scholar	rs1544410
google	rs1544410
pharmgkb	rs1544410
gwascentral	rs1544410
openSNP	rs1544410
23andMe	rs1544410
SNPshot	rs1544410
SNPdbe	rs1544410
MSV3d	rs1544410
GWAS Ctlg	rs1544410

GMAF

0.2649

Max Magnitude

2

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].

?

(A;A) (A;G) (G;G)

28

Rs1544410
PubMed	[PMID 10770213]
Affy Probeset	SNP_A-8603930
Affy Orientation	same
On GW 5.0	0
Alleles A/B	A/G
Ancestral	G
Population	Caucasian
Allele	A
Case Freq.
Control Freq.
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.

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

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

[PMID 31942418 ] Association of VDR Gene Variant (rs1544410) with Type 2 Diabetes in a Pakistani Cohort.

[PMID 30683615] Association of vitamin D levels and vitamin D-related gene polymorphisms with liver fibrosis in patients with biopsy-proven nonalcoholic fatty liver disease.

[PMID 32295184 ] MTHFR and VDR Polymorphisms Improve the Prognostic Value of MYCN Status on Overall Survival in Neuroblastoma Patients.

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

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

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

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