Association between vitamin D receptor gene polymorphisms (Fok1 and Bsm1) and osteoporosis: a systematic review

Abstract

Osteoporosis is a health concern characterized by reduced bone mineral density (BMD) and increased risk of fragility fractures. Many studies have investigated the association between genetic variants and osteoporosis. Polymorphism and allelic variations in the vitamin D receptor gene (VDR) have been found to be associated with bone mineral density. However, many studies have not been able to find this association. Literature review was conducted in several databases, including MEDLINE/Pubmed, Scopus, EMBASE, Ebsco, Science Citation Index Expanded, Ovid, Google Scholar, Iran Medex, Magiran and Scientific Information Database (SID) for papers published between 2000 and 2013 describing the association between Fok1 and Bsm1 polymorphisms of the VDR gene and osteoporosis risk. The majority of the revealed papers were conducted on postmenopausal women. Also, more than 50% studies reported significant relation between Fok1, Bsm1 and osteoporosis. Larger and more rigorous analytical studies with consideration of gene-gene and gene-environment interactions are needed to further dissect the mechanisms by which VDR polymorphisms influence osteoporosis.

Vitamin D Receptor Gene Variation, Dietary Intake and Bone Mineral Density in Obese Women: A Cross Sectional Study

“…To illustrate, the f allele carrier group (Ff and ff genotypes) had a lower L2_L4 BMD, L2_L4 T-score, L2_L4 Z-score, total BMD, and total T-score as well as total Z-score. As indicated above, the f allele of the VDR FOK1 gene is an important risk factor for low BMD (30) and osteoporosis (31,32) and seems to directly affect bone mineral mass in women. The results are in line with previous similar studies conducted in Iran, Japan, India and Korea, where FOK1 polymorphism was significantly correlated with bone mineral mass (24,31,(33)(34)(35)(36).…”

The Impact of Vitamin D Receptor Single Nucleotide Polymorphism on 1.25 (OH) Vitamin D3 and Bone Mineral Density in Egyptian Children with Beta-thalassemia

“…In more than 60% of the previous studies a significant association was found between the polymorphism Fok1 and osteoporosis [24].…”

Near East University Genetic Mutation Database (NEU-GD): The first mutation database of Northern Cyprus

“…The other benefit of NEU-GD comes up when looking at results from previous studies that have shown a strong connection between Vitamin D Receptor Gene (VDR) polymorphisms and diseases such as cancer, asthma, osteoporosis, diabetes, cardiovascular disease (Tizaoui et al, 2014;Gandini et al, 2014;Mohammadi et al, 2014;Roxana et al, 2015;Patrinos and Brookes, 2005). In NEU-GD there is allele frequency of most known and studied four pathogenic VDR gene polymorphisms in the Northern Cypriot population.…”