a Genetics, Immunology and Human Pathologies Laboratory, Faculty of Mathematical, Physical and Natural Sciences of Tunis , Tunis EL Manar University , Tunis , Tunisia.
b Immuno-Rheumatology Laboratory , Rabta Hospital, Faculty of Medicine of Tunis, Tunis EL Manar University , Tunis , Tunisia.
Climacteric. 2017 Aug;20(4):374-378. doi: 10.1080/13697137.2017.1315088. Epub 2017 Apr 28.
The dynamic nature of the skeleton is achieved by a remodeling process. Receptor activator of nuclear factor kappa B (RANK) ligand (RANKL) stimulates bone resorption by activating RANK signaling. Therefore it is considered as a candidate gene regulating susceptibility to osteoporosis. In the current study, we have investigated the association between the RANKL gene -693G > C and -643 C > T polymorphisms and bone mineral density (BMD) in a population of postmenopausal Tunisian women.
Polymorphic sites in RANKL gene (rs9533155 -693G > C and rs9533156 -643 C > T polymorphisms) were determined using PCR-RFLP analysis in 566 postmenopausal Tunisian women. All statistical analysis were examined by SPSS software.
We have detected a significant difference in lumbar spine and hip BMD for -643C > T genotypes. For -693G > C genotypes, a significant difference was detected only in hip BMD. The distribution of -643C > T genotypes and alleles between three groups (osteoporotic, osteopenic and normal women) revealed a significant association of the TT genotype with development of osteoporosis (p = 0.01; odds ratio 2.15), although for the -693G > C polymorphism, no significant results were found.
We have demonstrated the association of the -643C > T polymorphism with BMD variation and osteoporosis risk in postmenopausal Tunisian women.
骨骼的动态特性是通过重塑过程实现的。核因子 κB 受体激活剂（RANK）配体（RANKL）通过激活 RANK 信号刺激骨吸收。因此，它被认为是调节骨质疏松易感性的候选基因。在本研究中，我们研究了 RANKL 基因 -693G>C 和 -643 C>T 多态性与绝经后突尼斯妇女骨密度（BMD）之间的关系。
使用 PCR-RFLP 分析在 566 名绝经后突尼斯妇女中确定 RANKL 基因（rs9533155-693G>C 和 rs9533156-643 C>T 多态性）中的多态性位点。所有统计分析均采用 SPSS 软件进行检验。
我们发现 -643C>T 基因型在腰椎和髋部 BMD 方面存在显著差异。对于 -693G>C 基因型，仅在髋部 BMD 方面存在显著差异。-643C>T 基因型和等位基因在三组（骨质疏松、骨量减少和正常女性）中的分布显示 TT 基因型与骨质疏松的发生显著相关（p=0.01；优势比 2.15），尽管对于 -693G>C 多态性，未发现显著结果。
我们证明了 -643C>T 多态性与绝经后突尼斯妇女 BMD 变化和骨质疏松风险相关。
