98%
921
2 minutes
20
Background: Postmenopausal osteoporosis is not only related to hormonal factors but is also associated with environmental and genetic factors. One of the latter is the polymorphism of vitamin D receptor (). The aim of the reported study was to comprehensively analyze the gene polymorphic variants rs731236 (TaqI), rs1544410 (BsmI) and rs7975232 (ApaI) in the Polish population of postmenopausal women.
Methods: The study group consisted of 611 women after menopause (their median age was 65.82 ± 6.29 years). Each of them underwent bone densitometry (DXA) of the non-dominant femoral neck and total hip with a biochemical analysis of vitamin D3 serum concentration and genotyping of the above-mentioned single nucleotide polymorphisms (SNPs); the obtained results were analyzed in the aspect of waist circumference (WC), body mass index (BMI) and past medical history.
Results: The genotype prevalence rates of all SNPs were compatible with Hardy-Weinberg equilibrium ( > 0.050). Out of the studied polymorphisms, only rs731236 genotype variants affected DXA, with AG heterozygotes showing the worst bone parameters. Neither patient age nor vitamin D3 concentration, BMI, WC or comorbidities was associated with rs731236 genotype.
Conclusions: Out of the polymorphisms studied, only rs731236 genotypes differed among the DXA results, while the AG heterozygotes were characterized by the lowest median bone mineral density.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11048207 | PMC |
http://dx.doi.org/10.3390/biomedicines12040917 | DOI Listing |
Clin Rheumatol
September 2025
Department of Clinical Chemistry, Sestre Milosrdnice University Hospital Center, Vinogradska Cesta 29, Zagreb, Croatia.
Introduction/objectives: Psoriatic arthritis (PsA) is a chronic inflammatory rheumatic disease strongly associated with psoriasis. We hypothesized that the presence of variant alleles in VDR may be associated with worse clinical outcomes. The aim of this study was to evaluate a possible association between the FokI and TaqI polymorphisms in the VDR gene and clinical markers of disease activity and functional status in PsA.
View Article and Find Full Text PDFGenes (Basel)
August 2025
Red de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes; Departamento de Neurociencias, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico.
Background: Hypovitaminosis D has been associated with worse rheumatoid arthritis (RA) manifestations. Notably, different genetic studies have reported that approximately 65% of hypovitaminosis D can be partially explained using the presence of single-nucleotide variants (SNVs) in key genes involved in its metabolism. This study aimed to investigate the association and gene-gene interactions of four SNVs in vitamin D metabolism genes, rs10741657 (), rs10877012 (), rs4809959 ), and rs731236 () with hypovitaminosis D, RA, and its clinical disease activity in a Mexican mestizo population.
View Article and Find Full Text PDFIndian J Med Res
June 2025
Department of Pathology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bengaluru, Karnataka, India.
Background & objectives Vitamin D deficiency (VDD) and variations in the vitamin D receptor (VDR) gene are implicated in the pathogenesis of coronary artery disease (CAD). This study investigated the association between VDD, VDR gene variants (ApaI, BsmI, FokI, and TaqI), and CAD risk among South Indians. Methods The case-control study was conducted in 250 CAD patients and 260 matched controls.
View Article and Find Full Text PDFJ Steroid Biochem Mol Biol
October 2025
Team Research of Virology, Oncology, and Biotechnologies, Laboratory of Virology, Oncology, Biosciences, Environment and New Energies (LVO-BEEN), Faculty of Sciences and Techniques Mohammedia, University Hassan II of Casablanca, Casablanca, Morocco. Electronic address:
Vitamin D plays a critical role not only in maintaining bone health and regulating calcium levels, but is also involved in several extra-skeletal functions, including cell physiology, proliferation, differentiation, anti-cancer effects, modulation of immune responses, and inflammation control. Its biological effects are mediated by the nuclear vitamin D receptor (VDR), a member of the steroid hormone receptor family. Genetic variations in this VDR gene, such as the FokI (rs2228570) and TaqI (rs731236) single nucleotide polymorphisms (SNPs), may alter VDR expression levels, impair protein function, and potentially increase the risk of breast cancer.
View Article and Find Full Text PDFMol Biol Rep
June 2025
Centre for Global Health Research, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Chennai, Tamil Nadu, 602 105, India.
The intricate relationship between vitamin D and metabolic homeostasis has garnered substantial attention recently. The presence of the vitamin D receptor (VDR) in many tissues provides evidence of its broad physiological roles, in addition to its impact on calcium and phosphorus metabolism. VDR gene is expressed in various tissues such as skin, adipose tissue, testis, thyroid, esophagus, etc.
View Article and Find Full Text PDF