Kim Jung Oh, Han Soo Hong, Lee Yeon Ho, Ahn Tae Keun, Lim Jae Joon, Chung Young Sun, Shin Dong Eun, Lee Woo Sik, Han In Bo, Kim Nam Keun
Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Korea.
Department of Orthopedics, CHA Bundang Medical Center, CHA University, Seongnam 13496, Korea.
Int J Mol Sci. 2016 Dec 9;17(12):2062. doi: 10.3390/ijms17122062.
Osteoporosis and osteoporotic fractures are strongly associated with mortality and morbidity, both in developing and developed countries. Menopause accelerates bone loss due to estrogen deficiency and age-related linear bone loss. We investigated plasminogen activator inhibitor-1 () gene polymorphisms in postmenopausal women with osteoporotic vertebral compression fractures (OVCFs). In this case-control study, 355 postmenopausal women were genotyped for the presence of gene polymorphisms -844A > G, -675 4G > 5G, 43G > A, 9785A > G, and 11053T > G. Genetic polymorphisms of were analyzed by the polymerization chain reaction restriction fragment length polymorphism assay, and their association with disease status and folate and homocysteine levels was determined in 158 OVCF patients and 197 control subjects. The -675 5G5G (adjusted odds ratio (AOR), 3.302; 0.017) and 43GA + AA (AOR, 2.087; 0.042) genotype frequencies showed significant association with the increased prevalence of OVCFs in postmenopausal women. In addition, we performed gene-environment interaction studies and demonstrated an association between gene polymorphisms and OVCF prevalence. Our novel finding is the identification of several genetic variants that increase susceptibility to OVCF. Our findings suggest that polymorphisms in may contribute to OVCF, and that they can be developed as biomarkers for evaluating OVCF risk.
在发展中国家和发达国家，骨质疏松症及骨质疏松性骨折都与死亡率和发病率密切相关。绝经会因雌激素缺乏和与年龄相关的线性骨质流失而加速骨质流失。我们研究了患有骨质疏松性椎体压缩骨折（OVCF）的绝经后女性中的纤溶酶原激活物抑制剂-1（PAI-1）基因多态性。在这项病例对照研究中，对355名绝经后女性进行基因分型，以检测PAI-1基因多态性-844A>G、-675 4G>5G、43G>A、9785A>G和11053T>G的存在情况。通过聚合酶链反应-限制性片段长度多态性分析检测PAI-1的基因多态性，并在158例OVCF患者和197名对照受试者中确定其与疾病状态以及叶酸和同型半胱氨酸水平的关联。PAI-1 -675 5G5G（校正比值比（AOR），3.302；P=0.017）和43GA+AA（AOR，2.087；P=0.042）基因型频率显示与绝经后女性中OVCF患病率增加显著相关。此外，我们进行了基因-环境相互作用研究，并证明了PAI-1基因多态性与OVCF患病率之间的关联。我们的新发现是鉴定出了几种增加OVCF易感性的PAI-1基因变异。我们的研究结果表明，PAI-1基因多态性可能导致OVCF，并且它们可被开发为评估OVCF风险的生物标志物。
