3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.

As life expectancy increases, the prevalence of osteoporosis is increasing. In addition to vitamin D which is well established to have an association with osteoporosis, B vitamins, such as thiamine, folate (vitamin B9), and cobalamin (vitamin B12), could affect bone metabolism, bone quality, and fracture risk in humans by influencing homocysteine/folate metabolism. Despite the crucial role of B vitamins in bone metabolism, there are few studies regarding associations between B vitamin-related genes and osteoporosis. In this study, we investigated the genetic association of four single nucleotide polymorphisms (SNPs) within the 3'-untranslated regions of vitamin B-related genes, including (encodes transcobalamin II), (encodes transcobalamin II receptor), (encodes reduced folate carrier protein 1), and (encodes thiamine carrier 1), with osteoporosis and osteoporotic vertebral compression fracture (OVCF). We recruited 301 postmenopausal women and performed genotyping of , , and using a polymerization chain reaction-restriction fragment length polymorphism assay. There was a significantly higher incidence of both osteoporosis (AOR 5.019; 95% CI, 1.533-16.430, < 0.05) and OVCF (AOR, 5.760; 95% CI, 1.480-22.417, < 0.05) in individuals with genotype CT+TT and high homocysteine concentrations. Allele combination analysis revealed that two combinations, namely C- T- T- C (OR, 3.244; 95% CI, 1.478-7.120, < 0.05) and T- C- G- C (OR, 2.287; 95% CI, 1.094-4.782, < 0.05), were significantly more frequent among the osteoporosis group. Our findings suggest that SNPs within the gene in 3´-UTR may contribute to osteoporosis and OVCF occurrences in some individuals. Furthermore, specific allele combinations of , , and may contribute to increased susceptibility to osteoporosis and OVCF.