两个新钙感觉受体基因多态性与中国女性骨密度相关性研究

Association between two new single-nucleotide polymorphisms in calcium-sensing receptor gene and bone mineral density in Chinese women

目的钙感觉受体(CaSR)基因是引人关注的与骨质疏松症敏感性相关的侯选基因,为了解CaSR基因两个新多态位点与中国女性人群骨密度(BMD)的关系。方法采用双能X线吸收仪对352名研究对象进行腰椎及股骨扫描,应用PCR限制性片段长度多态性(PCRRFLP)方法检测CaSR基因R990G和E1011Q两个新多态位点基因型,用广义线性模型分析CaSR基因与腰椎及股骨BMD关系。结果发现CaSR基因的E1011Q多态位点在调整相关影响因素前后均与女性股骨颈、股骨柄和股骨三角区的BMD呈显著相关,P值分别为0.011、0.04和<0.001;R990G多态位点在调整影响因素前后,显示与女性股骨颈密度有相关趋势P=0.055,而A986S基因多态未显示与股骨、腰椎BMD相关。结论这一结果提示,CaSR基因E1011Q多态性可能是中国女性股骨BMD降低的危险因素。这个发现的意义及是否适用于大样本人群还有待进一步研究证实。

Objective To investigate the association between two new sites of gene polymorphisms of calciumsensing receptor and bone mineral density （BMD） in Chinese women. Methods The bone mineral density was measured at the lumbar spine（L2-4） and femur using dual-energy X-ray absorptiometry in 352 Chinese women. PCR-restriction fragment length polymporphisms （PCR-RELP） was used to examined R990G, E1011Q, two new sites polmyorphisms of the CaSR gene. Generalized linear model was used to analyze the association of CaSR gene and the BMD.Results Significant correlation was found between E1011Q and femoral neck BMD,ward triangle BMD and femoral shaft BMD with or without adjustment of other factors（ P = 0.011,0.04 and 〈 0.001, respectively） ; The relation ship was showed between R990G and BMD of femoral neck, before and after adjusting for other factors（ P = 0,055 ）, but no relationship was found between A986S and BMD of the lumbar spine （L2-4） and femur. Conclusions The E1011Q of the CaSR gene might be a risk factor for low bone density of femur in Chinese women. Further studies including larger population are required.