Single nucleotide variants in VDR and GC genes associated with osteoporosis in Mexican women.

OBJECTIVE

Osteoporosis is a prevalent multifactorial disease. Single nucleotide variants (SNVs) have been studied as a potential tool for estimating disease risk. These findings suggest that the GG genotype of rs2282679 in the vitamin D-binding protein (GC) gene may confer a protective effect against osteoporosis in postmenopausal Mexican women, whereas no significant association was found for rs4516035 in the vitamin D receptor (VDR). This highlights the potential of integrating genetic screening, particularly of GC-related variants, into osteoporosis risk assessment and prevention strategies.

METHOD: A total of 535 women were included. Genotyping was performed through TaqMan assays, and association analyses, including the chi-squared test and logistic regression, were conducted considering different inheritance models.

RESULTS

The allelic frequencies from both SNVs did not show a statistically significant difference between the groups of cases and controls. However, through logistic regression analyses for rs2282679, the GG genotype of the rs2282679 was associated with a protective effect under both recessive and additive inheritance models in unadjusted (odds ratio [OR] 0.27, confidence interval [CI] 0.11-0.63, p = 0.003; OR 0.26, CI 0.11-0.63, p = 0.003, respectively) and adjusted (OR 0.13, CI 0.03-0.55, p = 0.006; OR 0.13, CI 0.03-0.57, p = 0.007, respectively) models.

CONCLUSION

The GG genotype of rs2282679 seems to confer protection against osteoporosis. Further research, including functional validation and studies in larger and diverse cohorts, is warranted to elucidate the underlying biological mechanisms and confirm these results.