Vitamin-D-Receptor Genotypes and Bone-Mineral Density in Postmenopausal Women: Interaction with Physical Activity

Abstract

The current study investigated the association between vitamin-D-receptor (VDR) genotypes with bone-mineral density (BMD) and its interaction with physical activity level (PAL). Individuals in a sample of 192 volunteers (67.84 ± 5.23 years) underwent BMD evaluation and were genotyped for VDR ApaI, BsmI, FokI, and TaqI polymorphisms. Haplotypes were reconstructed through expectation-maximization algorithm, and regression-based haplotype-specific association tests were performed with studied phenotypes. None of the polymorphisms were associated with BMD at any site; however, haplotype was associated with femoral-neck and Ward’s-triangle BMD. Interaction between PAL and VDR genotypes was significant for the FokI polymorphism at femoral-neck and Ward’s-triangle BMD. The FokI T/T genotype was associated with higher BMD in active women. It was concluded that VDR haplotypes, but not genotypes, are associated with femoral-neck and Ward’s-triangle BMD in post-menopausal women. Moreover, the results suggest that VDR FokI polymorphism might be a potential determinant of BMD response to physical activity.

Genetic Heterogeneity of Self-Reported Ancestry Groups in an Admixed Brazilian Population

“…The detailed optimized multiplex single-base extension protocol, with reactant concentration and PCR thermocycling conditions, has been reported elsewhere. 21 , 31 – 33 …”

Genetic Dissection of Trabecular Bone Structure with Mouse Intersubspecific Consomic Strains

“…If these genes had SNPs in their cis -regulatory elements, such as the promoter and enhancer, gene expression could be altered, and the SNPs and other structure variants could eventually cause the phenotype. The Block10 region that contains Tbsq4 is syntenic to human Chr12q12-13.3, where several bone-related SNPs have been assigned from GWAS (Bezerra et al 2008; Gentil et al 2007, 2009; Kim et al 2007; Pérez et al 2008; Dundar et al 2009; Mencej-Bedrač et al 2009; Pluskiewicz et al 2009; Timpson et al 2009; Zmuda et al 2009). Identification of the causative gene(s) for Tbsq4 should facilitate our understanding of the genetic regulation of bone structure in humans.…”

Densidade mineral óssea de idosas independentes com diferentes perfis físico-funcionais e polimorfismos do gene do receptor da vitamina D

“…The authors of that study showed that bone benefited from physical activity regardless of genotype. Moreover, Blanchet et al 28 and Gentil et al 7 showed that the dominant genotype is associated with increased BMD in physically active women. Tsuritani et al 11 found that the recessive genotype is more responsive to exercise.…”

“…Regarding the interaction between VDR gene polymorphism and physical and functional performance, studies have shown that the dominant effect is associated with increased BMD in physically active women 7,13 . Moreover, Tsuritani et al 11 found that the recessive allele is more responsive to physical exercise.…”

“…In contrast, other studies have shown that genetics was not related to BMD 5,6 . It is known that in addition to VDR gene polymorphisms, BMD is influenced by environmental factors and the interaction of both 7 . In this context, physical and functional factors can be highlighted as important contributors of BMD.…”