Feng Guixi, Meng Limin, Wang Hui, Lu Yun, Jia Jian, Zhang Yinguang, Zhang Haibin, Zhang Bo
Department of Joint Surgery, Tianjing Hospital, Tianjin 300211, People's Republic of China.
J Pediatr Endocrinol Metab. 2012;25(11-12):1141-4. doi: 10.1515/jpem-2012-0274.
Osteoporosis is a common complex and polygenic disease in postmenopausal women, which is characterized by a decrease in bone mineral density (BMD). The osteoprotegerin (OPG) is an important candidate gene in the pathogenesis of osteoporosis. The aim of this study was to investigate the association between single-nucleotide polymorphisms (SNPs) in the OPG gene and BMD.
OPG gene polymorphisms and BMD were analyzed in 352 Chinese postmenopausal women. BMD was quantified at the lumbar spine (L2-4), femoral neck, and total hip.
Through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing methods, an allelic variant corresponding to the G→A mutations at position 23276 in exon 3 of the OPG gene could be detected. The association between g.23276 G>A polymorphisms and BMD was analyzed, and a significant association was found between g.23276 G>A and spine BMD. The mean of genotype GG was significantly higher than those of genotype GA and AA. There was no significant difference in neck hip BMD and total hip BMD among different genotypes.
These findings suggested that g.23276 G>A genotypes in the OPG gene were associated with spine BMD in Chinese postmenopausal women. The A-allele was associated with lower BMD and an increased risk for osteoporosis.
骨质疏松症是绝经后女性常见的复杂多基因疾病，其特征是骨密度（BMD）降低。骨保护素（OPG）是骨质疏松症发病机制中的一个重要候选基因。本研究旨在探讨OPG基因单核苷酸多态性（SNP）与BMD之间的关联。
对352名中国绝经后女性进行OPG基因多态性和BMD分析。在腰椎（L2-4）、股骨颈和全髋部对BMD进行定量。
通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和DNA测序方法，可检测到与OPG基因第3外显子23276位G→A突变相对应的等位基因变异。分析了g.23276 G>A多态性与BMD之间的关联，发现g.23276 G>A与脊柱BMD之间存在显著关联。基因型GG的平均值显著高于基因型GA和AA。不同基因型之间的颈部髋部BMD和全髋部BMD无显著差异。
这些结果表明，OPG基因中的g.23276 G>A基因型与中国绝经后女性的脊柱BMD相关。A等位基因与较低的BMD和骨质疏松症风险增加相关。
