Vitamin D receptor gene polymorphisms, bone mineral density and fractures in postmenopausal women with osteoporosis

Abstract

The goal of the study was to investigate the possibility of an association between polymorphisms and single alleles of BsmI, ApaI, TaqI of the vitamin D receptor (VDR) gene with bone mineral density (BMD) and prevalence of vertebral/non-vertebral fractures in a group of postmenopausal Polish women with osteoporosis. The study group comprised of 501 postmenopausal females with osteoporosis (mean age 66.4 ± 8.9), who were diagnosed on the basis of either the WHO criteria or self-reported history of low-energy fractures. The three polymorphisms were determined by PCR (polymerase chain reaction) and RFLP (restriction fragment length polymorphism). BMD at the lumbar spine and femoral neck was assessed by dual energy X-ray absorptiometry (DXA). 285 fractures were reported in the whole group (168 vertebral and 117 non-vertebral). Incidence of non-vertebral fractures was significantly higher in the carriers of single alleles a of ApaI, b of BsmI and T of TaqI VDR gene polymorphisms (p = 0.021, 0.032, 0.020, respectively). No significant associations between allelic variants of the studied polymorphisms and BMD or fracture incidence were found. (1).The presence of single alleles a,b and T of ApaI, BsmI, TaqI VDR gene polymorphisms respectively, might serve as an indicator of non-vertebral fractures. (2). Lack of association between the VDR gene polymorphisms and BMD suggests that VDR contributes to low-energy fractures also through other ways.

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

“…Other studies 5,6 found no association between VDR gene polymorphisms (TaqI, ApaI, BsmI) and BMD, which corroborates our findings. It is important to highlight how TaqI, BsmI and ApaI polymorphisms affect the vitamin D receptor action, as they have no effect on the end product of the protein encoded by the VDR gene, but modulate gene expression 5 . In the present study, it could be inferred that the effects of VDR polymorphisms were discrete in relation to all factors affecting BMD, in addition to the sample size.…”

“…Houston et al 4 have found association between recessive genotype and lower BMD. 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 .…”

The Association between Vitamin D Receptor FokI Gene Polymorphism and Osteoporosis in Postmenopausal Women: A Meta-Analysis

“…Through the genome of a single nucleotide polymorphism frequency analysis, the vitamin D receptor gene polymorphism should be more than 100 kinds [8,9]. We know vitamin D receptor gene polymorphisms mainly related to four single nucleotide polymorphisms (BsmI, TaqI, ApaI and FokI) from recent study [10].…”

Association of the g.19074G>A genetic variant in the osteoprotegerin gene with bone mineral density in Chinese postmenopausal women

“…Low BMD is a major risk factor for primary osteoporosis (Nguyen et al, 2000;Lee et al, 2010;Ozbas et al, 2012). To date, several studies have reported that some functional genes, for example, the osteoprotegerin (OPG) gene (Pocock et al, 1987;Hofbauer and Schoppet, 2002;Langdahl et al, 2002;Yamada et al, 2003;Arko et al, 2002Arko et al, , 2005Vidal et al, 2011;Feng et al, 2012;Hussien et al, 2013;Zhang et al, 2013), the vitamin D receptor (VDR) gene (Fang et al, 2005;Jakubowska-Pietkiewicz et al, 2012;Kurt et al, 2012;Li et al, 2012;Hussien et al, 2013;Horst-Sikorska et al, 2013), and the estrogen receptor alpha (ERalpha) gene (Kurt et al, 2012), affected BMD and primary osteoporosis. Among these candidate genes, OPG is one of the most important.…”