中文摘要：

目的本研究旨在探讨石河子地区中老年人群LRP5基因Q89R位点多态性与骨质疏松之间的关系。方法通过采用聚合酶链反应限制性片段长度多态性技术（PCR-RFLP）对115例健康汉族中老年人、74例骨量低下者和33例骨质疏松患者的LRP5基因Q89R位点进行分型,并计算其基因频率分布;全自动生化仪对生化指标进行检测;双能X线骨密度仪测定腰椎L1-L4和股骨颈、Ward’s三角区、大转子、股骨干的骨密度。结果中老年男性人群LRP5基因Q89R位点各基因型之间的骨密度、生化指标均无统计学差异。中老年女性LRP5基因Q89R位点QQ、QR、RR基因型总基因频率分别为82.14%、16.97%、0.89%;正常对照组分别为88.10%、11.90%、0%;骨量低下组分别为90.24%、9.76%、0%,骨质疏松组分别为62.07%、34.48%、3.45%,QQ、QR型在骨质疏松组与骨量低下组、正常对照组之间的基因频率存在显著性统计学差异;腰椎L1-L3、大转子的骨密度与Q89R基因型相关;未发现腰椎第四节、Ward’s三角区、股骨颈、股骨干的骨密度值与Q89R基因型具有相关性;生化指标中,血清磷含量与基因型显著相关。结论 LRP5基因Q89R位点多态性具有种族、地区差异性。LRP5基因Q89R位点基因多态性是石河子地区中老年女性骨质疏松的预测因素,提示LRP5基因是影响骨密度的候选基因之一。

英文摘要：

Objective The aim of this study was to investigate the relationship between LRP5 gene Q89R site polymorphisms and osteoporosis among middle-aged and older people in the Shihezi area. Methods Q89R genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） in 222 middle-aged and old people in Shihezi. The genotypes of LRP5 gene Q89R site were classified and the allele frequency distribution was calculated. Biochemical indicators were detected by automatic biochemical analyzer. Bone mineral density（BMD） of the lumbar spine（L1-L4）,femoral neck,Ward’s triangle area,trochanter and femoral shaft were measured by dual X-ray absorptiometry（DXA）. Results There were no significant differences in BMD and biochemical parameters between the LRP5 gene Q89R site polymorphisms in middle-aged and older males. The total gene frequencies of QQ,QR and RR genotypes at the LRP5 gene Q89R site in middle-aged and older females were 82. 14%,16. 97%,0. 89%（normal bone mass group 88. 10%,11. 90%,0%; osteopenia group 90. 24%,9. 76%,0%; osteoporosis group62. 07%,34. 48%,3. 45%）. There were significant differences in the gene frequency between osteoporosis,osteopenia and normal control groups for QQ and QR genotypes. There were significant correlations between BMD of lumbar spine（L1-L3） and trochanter and Q89R genotype. No significant correlations were found between the BMD of lumbar spine（L4）,Ward’s triangle,femoral neck,femoral shaft and Q89R genotype. Among biochemical parameters,serum phosphorus was significantly correlated with genotype. Conclusion There are ethnic and regional differences on the polymorphism of LRP5 gene Q89R site. LRP5 gene Q89R site polymorphism is a predictor of osteoporosis among middle-aged and older women in Shihezi area,suggesting that the LRP5 gene is one of the candidate genes that affect bone density.