Abstract
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 TCN2 (encodes transcobalamin II), CD320 (encodes transcobalamin II receptor), SLC19A1 (encodes reduced folate carrier protein 1), and SLC19A2 (encodes thiamine carrier 1), with osteoporosis and osteoporotic vertebral compression fracture (OVCF). We recruited 301 postmenopausal women and performed genotyping of CD320 rs9426 C>T, TCN2 rs10418 C>T, SLC19A1 rs1051296 G>T, and SLC19A2 rs16862199 C>T 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, p < 0.05) and OVCF (AOR, 5.760; 95% CI, 1.480–22.417, p < 0.05) in individuals with genotype CD320 CT+TT and high homocysteine concentrations. Allele combination analysis revealed that two combinations, namely CD320 C-TCN2 T-SLC19A1 T-SLC19A2 C (OR, 3.244; 95% CI, 1.478–7.120, p < 0.05) and CD320 T-TCN2 C-SLC19A1 G-SLC19A2 C (OR, 2.287; 95% CI, 1.094–4.782, p < 0.05), were significantly more frequent among the osteoporosis group. Our findings suggest that SNPs within the CD320 gene in 3´-UTR may contribute to osteoporosis and OVCF occurrences in some individuals. Furthermore, specific allele combinations of CD320, TCN2, SLC19A1, and SLC19A2 may contribute to increased susceptibility to osteoporosis and OVCF.
Highlights
As the number of older people at risk for compromised bone health rapidly increases, identifying new risk factors for osteoporosis has become the center of attention
When comparing the control group with the osteoporosis group, we found that patients with osteoporosis were significantly more likely to have higher blood glucose levels, lower body mass index (BMI), and decreased LDL and vitamin B12 levels
The results of the present study indicate that the incidence of osteoporosis and osteoporotic vertebral compression fracture (OVCF) is significantly increased in a subset of patients who are carrying genotype CD320 Computed tomography (CT)+TT and have high homocysteine levels
Summary
As the number of older people at risk for compromised bone health rapidly increases, identifying new risk factors for osteoporosis has become the center of attention. Accumulating evidence suggests that high homocysteine level may cause osteoporosis by over production of free radicals and oxidative stress, promotion of osteoclast activity and bone resorption, and inhibition of bone formation. Deficiencies in vitamin B6, B9 (folate), and B12 (cobalamin) have been known to cause increased serum levels of homocysteine because these vitamins act as co-factors for various enzymes involved in homocysteine metabolism [1,2]. The effects of vitamin B1 (thiamine) on bone health remains unclear, previous studies show that thiamine may inhibit receptor activator of nuclear factor κB ligand induced osteoclastogenesis, suggesting a potential link between thiamine deficiency and poor bone health [2]
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