García-Unzueta M T, Riancho J A, Zarrabeitia M T, Sañudo C, Berja A, Valero C, Pesquera C, Paule B, González-Macías J, Amado J A
Clinical Biochemistry, Hospital Universitario Marqués de Valdecilla, University of Cantabria, Santander, Spain.
Horm Metab Res. 2008 Mar;40(3):219-24. doi: 10.1055/s-2008-1046793.
The aim of the study was to investigate the distribution of 163 A/G osteoprotegerin gene promoter and 1181 G/C osteoprotegerin exon 1 polymorphisms in a group of women with different hormonal status and to analyze their relationship with BMD. Osteoprotegerin polymorphisms and BMD were analyzed in 332 women (69 premenopausal and 263 postmenopausal). BMD was quantified at the lumbar spine (L 2-4), femoral neck, and total hip. Genotyping for the presence of different polymorphisms was performed using the Custom Taqman ((R)) SNP Genotyping assays. There were not significant differences in BMD according to 163 A/G genotype. However, significant differences in lumbar spine BMD were found according to 1181 G/C alleles. Thus, women with CC genotype had significant higher BMD at the lumbar spine than those with GC or GG genotype. No differences were found in femoral neck and total hip BMD. In age-adjusted models, the 1181 G/C OPG polymorphism explained 2.2% of BMD variance at the spine, 0.3% at the femoral neck, and 0.9% at the total hip in the whole group. In the subgroup of premenopausal women, the polymorphism was strongly related to spine BMD, and explained 11.5% of the variance, whereas body weight explained 7.9%. The 1181 G/C polymorphism was associated with lumbar spine BMD in Spanish women. Premenopausal women with the CC genotype had a higher BMD.
本研究的目的是调查163A/G骨保护素基因启动子和1181G/C骨保护素外显子1多态性在一组具有不同激素状态的女性中的分布情况，并分析它们与骨密度的关系。对332名女性（69名绝经前女性和263名绝经后女性）的骨保护素多态性和骨密度进行了分析。在腰椎（L2-4）、股骨颈和全髋部对骨密度进行了量化。使用定制Taqman（R）SNP基因分型检测法对不同多态性的存在进行基因分型。根据163A/G基因型，骨密度没有显著差异。然而，根据1181G/C等位基因，在腰椎骨密度上发现了显著差异。因此，CC基因型的女性在腰椎的骨密度显著高于GC或GG基因型的女性。在股骨颈和全髋部骨密度方面未发现差异。在年龄调整模型中，1181G/C骨保护素多态性在整个组中解释了脊柱骨密度变异的2.2%、股骨颈骨密度变异的0.3%和全髋部骨密度变异的0.9%。在绝经前女性亚组中,该多态性与脊柱骨密度密切相关，解释了11.5%的变异，而体重解释了7.9%的变异。1181G/C多态性与西班牙女性的腰椎骨密度相关。CC基因型的绝经前女性骨密度较高。
