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.

中文翻译：

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SPON1基因与绝经后骨质疏松症遗传易感性的关系评估。

目的：绝经后骨质疏松症（PMOP）是一种以骨矿物质密度（BMD）降低为特征的全身性骨退行性疾病。先前的研究表明，SPON1基因可能与BMD相关，并在PMOP的发生和发展中起重要作用。该研究旨在探讨PMOP与SPON1基因之间的潜在关联。方法：招募了8062名绝经后女性，包括2684名原发性PMOP患者和5378名健康对照者。选择40个标签SNP进行基因分型，以评估SPON1基因与PMOP和BMD的关联。结果：SNP rs2697825与两个等位基因的PMOP风险显着相关（T统计量= -3.84，p =。0001）和基因型水平（χ2= 15.86，p = .0004）。SNP rs2697825的G等位基因与PMOP风险降低显着相关，OR [95％]为0.84 [0.77-0.92]。SNP rs2697825的G等位基因与腰椎和股骨颈的BMD升高有关。结论：我们的结果提供了进一步的证据来支持SPON1基因在PMOP的病因学中的重要作用，加深了对易感性的当前了解骨质疏松症。