Evaluation of relationship between <i>SPON1</i> gene and genetic susceptibility of postmenopausal osteoporosis

Abstract

Purpose Postmenopausal osteoporosis (PMOP) is one of systemic bone degenerative diseases characterised by decreased bone mineral density (BMD). Previous studies suggest that the SPON1 gene may be associated with BMD and play an important role in the occurrence and development of PMOP. In this study, we aimed to investigate the potential association between PMOP and the SPON1 gene.Methods A total of 8062 postmenopausal women comprising 2684 primary PMOP patients, and 5378 healthy controls were recruited. Forty tag SNPs were selected for genotyping to evaluate the association of the SPON1 gene with PMOP and BMD. Genetic association and bioinformatics analyses were performed for PMOP.Results SNP rs2697825 was identified to be significantly associated with the risk of PMOP at both allelic (T-statistics = −3.84, p = .0001) and genotypic levels (χ2=15.86, p = .0004). The G allele of SNP rs2697825 was significantly associated with a decreased risk of PMOP with an OR [95%] of 0.84 [0.77–0.92]. The G allele of SNP rs2697825 was associated with increased BMD at both the lumbar spine and femoral neck.Conclusions Our results provide further evidence to support the important role for the SPON1 gene in the aetiology of PMOP, adding to the current understanding of the susceptibility to osteoporosis.