绝经前后妇女RANK基因多态性与骨密度相关性的研究

目的 分析RANK基因的单核苷酸多态性（SNP)与绝经前后妇女骨密度（BMD)的关系。方法 在235名绝经前后妇女中，采用基质辅助激光解吸电离飞行时间质谱技术对三个RANK基因的SNP进行分型。应用双能X线骨密度仪测定腰椎和股骨颈BMD。结果rs3018362的AA/AG基因型BMD显著高于GG型（P <0.05)，rsl80503的TT基因型在低骨量患者中 占63. 6 % ,而在正常骨量人群中仅占39.5 %(P<0. 05)，提示其可能与峰值骨量有关。结论 RANK基因多态性与中国绝经前后妇女BMD有关,但仍需大样本研究证实。

Association of genetic polymorphisms of RANK and bone mineral density in Chinese peri- and postmenopausal women

Objective To explore the influence of 3 single nucleotide polymorphisms of receptor activator of nuclear factor-kB (RANK) in bone mineral density (BMD) in a Chinese female population. Methods A cross-sectional study was conducted in 108, perimenopausal and 127 postmenopausal women. All participants underwent lumbar spinal and nondominant femoral BMD evaluation using dual energy X-ray absorptiometry. Three genotypes of RANK were determined by the chip-based matrix-assisted laser desorption ionization time-of-flight mass spectrometry. Results BMD in rs3018362 AA/AG genotype of RANK was significantly higher than that in GG genotype. The percentage of rs180503 TT genotype was 63.6% in low BMD patients, but was 39.5% in normal bone mass population, indicating that it was associated with peak bone mass. Conclusion RANK genetic polymorphisms influence BMD in peri- and postmenopausal Chinese women. This needs further confirmation by large sample study.