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
|qualified_impact||Low clinical importance, Uncertain pharmacogenetic|
|summary||rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon.|
[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.