Song J F, Jing Z Z, Hu W, Su Y X
Department of Orthopaedics, Shanxi Provincial People's Hospital, Taiyuan, Shanxi Province, China
Genet Mol Res. 2013 Sep 3;12(3):3279-85. doi: 10.4238/2013.September.3.4.
Osteoporosis is an important and common complex health problem, particularly in postmenopausal women. It is characterized by a reduction in bone mineral density (BMD) and a deterioration of bone microarchitecture with a consequent increase of fracture risk. The osteoprotegerin (OPG) gene is considered to play an important role in the pathogenesis of osteoporosis. We analyzed SNPs of the OPG gene and associations between these polymorphisms and BMD in 399 Chinese postmenopausal women. BMD was quantified at the lumbar spine (L2-4), femoral neck, and total hip. The g.2264T>C and g.27676A>C SNPs were detected by PCR-RFLP and DNA sequencing methods. A significant association with spine BMD was found for g.27676A>C. The spine BMD value for subjects with genotype AA was significantly higher than those with genotypes GA and AA. No significant association was detected between any of the SNP marker genotypes and the other traits. We conclude that g.27676A>C in the OPG gene affects spine BMD and that the C allele is associated with increased risk for osteoporosis in Chinese postmenopausal women.
骨质疏松症是一个重要且常见的复杂健康问题，在绝经后女性中尤为如此。其特征是骨矿物质密度（BMD）降低以及骨微结构恶化，进而导致骨折风险增加。骨保护素（OPG）基因被认为在骨质疏松症的发病机制中起重要作用。我们分析了399名中国绝经后女性的OPG基因单核苷酸多态性（SNP）以及这些多态性与骨密度之间的关联。在腰椎（L2 - 4）、股骨颈和全髋部对骨密度进行了量化。通过聚合酶链反应 - 限制性片段长度多态性分析（PCR - RFLP）和DNA测序方法检测了g.2264T>C和g.27676A>C单核苷酸多态性。发现g.27676A>C与脊柱骨密度存在显著关联。基因型为AA的受试者的脊柱骨密度值显著高于基因型为GA和AA的受试者。未检测到任何SNP标记基因型与其他性状之间存在显著关联。我们得出结论，OPG基因中的g.27676A>C影响脊柱骨密度，并且C等位基因与中国绝经后女性患骨质疏松症的风险增加相关。
