Liu Y P, Zhao D W, Wang W M, Wang B J, Zhang Y, Li Z G
Dalian University of Technology, Dalian, Liaoning Province, China.
Department of Orthopaedic Surgery, The Affiliated Zhongshan Hospital of Dalian University, Dalian, Liaoning Province, China.
Genet Mol Res. 2014 Feb 14;13(2):3560-6. doi: 10.4238/2014.February.14.9.
Osteoporosis is a common multifactorial disease in postmenopausal women. This study aimed to investigate the association of the g.27563G>A osteoprotegerin (OPG) genetic polymorphism with bone mineral density (BMD) and osteoporosis. A case-control study was carried out with 435 osteoporosis postmenopausal women cases and 442 age-matched healthy controls. The BMD at the femoral neck hip, lumbar spine (L₂₋₄), and total hip were assessed by Norland XR-46 dual-energy X-ray absorptiometry. The genotypes of the g.27563G>A genetic polymorphism were detected by created restriction site-polymerase chain reaction and verified by DNA sequencing methods. We detected that the g.27563G>A genetic polymorphism was a non-synonymous mutation that resulted in an arginine (Arg) to glutamine (Gln) amino acid replacement (p.Arg333Gln). Significant differences were found in the BMD of the femoral neck hip, lumbar spine (L₂₋₄), and total hip among different genotypes of the g.27563G>A genetic polymorphism. Subjects with the genotype GG had significantly higher BMD values than those with genotypes GA and AA (P < 0.05). Our data indicated that the A allele of the g.27563G>A genetic polymorphism in OPG could be associated with lower BMD values in the Chinese postmenopausal women evaluated, and that it might be an increased risk factor for osteoporosis.
骨质疏松症是绝经后女性中常见的多因素疾病。本研究旨在探讨骨保护素（OPG）基因g.27563G>A多态性与骨密度（BMD）及骨质疏松症之间的关联。开展了一项病例对照研究，纳入435例绝经后骨质疏松症女性病例和442例年龄匹配的健康对照。采用Norland XR - 46双能X线吸收法评估股骨颈、髋部、腰椎（L₂₋₄）和全髋部的骨密度。通过创建限制性酶切位点 - 聚合酶链反应检测g.27563G>A基因多态性的基因型，并采用DNA测序方法进行验证。我们检测到g.27563G>A基因多态性是一种非同义突变，导致精氨酸（Arg）被谷氨酰胺（Gln）取代（p.Arg333Gln）。在g.27563G>A基因多态性的不同基因型之间，股骨颈、髋部、腰椎（L₂₋₄）和全髋部的骨密度存在显著差异。基因型为GG的受试者的骨密度值显著高于基因型为GA和AA的受试者（P < 0.05）。我们的数据表明，在接受评估的中国绝经后女性中，OPG基因g.27563G>A多态性的A等位基因可能与较低的骨密度值相关，并且可能是骨质疏松症的一个风险增加因素。
