Department of Orthopedics, CHA Bundang Medical Center, CHA University, Seongnam 13496, Korea.
Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Korea.
Int J Mol Sci. 2018 Mar 12;19(3):824. doi: 10.3390/ijms19030824.
Postmenopausal osteoporosis is one of the most prominent diseases in postmenopausal women and it is increasing in prevalence with the aging population. Furthermore, osteoporosis and osteoporotic vertebral compression fractures (OVCFs) are related to mortality and decreased quality of life. Therefore, searching for biomarkers that are able to identify postmenopausal women who are at high risk of developing OVCFs is an effective strategy for improving the quality of life of patients and alleviating social and economic burdens. In this study, we investigated methylenetetrahydrofolate reductase () and thymidylate synthase () gene polymorphisms in postmenopausal women with OVCF. We recruited 301 postmenopausal women and performed genotyping for the presence of 2572C>A, 4869C>G and TS 1100C>T, 1170A>G. Genotyping was analyzed using the polymerization chain reaction restriction fragment length polymorphism assay. MTHFR 2572C>A and TS 1100C>T were associated with the prevalence of osteoporosis (MTHFR 2572CC versus CA+AA: odd ratio [OR] adjusted age, hypertention [HTN], and diabetes mellitus [DM] = 0.49, = 0.012) and the occurrence of OVCFs (MTHFR 2572CC versus CA+AA: OR adjusted age, HTN, and DM = 0.38, = 0.013; TS 1100CC versus CT+TT: OR adjusted age, HTN, and DM = 0.46, = 0.02). Our novel finding is the identification of MTHFR and TS genetic variants that decrease susceptibility to OVCFs. Our findings suggest that polymorphisms in the and genes are associated with susceptibility to osteoporosis and OVCFs in postmenopausal women.
绝经后骨质疏松症是绝经后妇女中最突出的疾病之一,随着人口老龄化,其患病率也在增加。此外,骨质疏松症和骨质疏松性椎体压缩性骨折(OVCFs)与死亡率和生活质量下降有关。因此,寻找能够识别绝经后发生 OVCFs 风险较高的女性的生物标志物是提高患者生活质量和缓解社会经济负担的有效策略。在这项研究中,我们研究了绝经后 OVCF 女性中甲硫氨酸合成酶()和胸苷酸合成酶()基因的多态性。我们招募了 301 名绝经后妇女,对 2572C>A、4869C>G 和 TS 1100C>T、1170A>G 进行了基因分型。聚合酶链反应限制性片段长度多态性分析用于基因分型。MTHFR 2572C>A 和 TS 1100C>T 与骨质疏松症的患病率相关(MTHFR 2572CC 与 CA+AA:校正年龄、高血压[HTN]和糖尿病[DM]的比值比[OR] = 0.49,= 0.012)和 OVCFs 的发生(MTHFR 2572CC 与 CA+AA:校正年龄、HTN 和 DM 的 OR = 0.38,= 0.013;TS 1100CC 与 CT+TT:校正年龄、HTN 和 DM 的 OR = 0.46,= 0.02)。我们的新发现是确定降低 OVCFs 易感性的 MTHFR 和 TS 遗传变异。我们的研究结果表明,和基因中的多态性与绝经后妇女骨质疏松症和 OVCFs 的易感性有关。