安徽地区绝经后妇女低密度脂蛋白受体相关蛋白5基因多态性与骨密度的关系

Association between LDL receptor-related protein 5 gene polymorphisms and bone mineral density in Anhui postmenopausal women

目的研究安徽地区绝经后妇女低密度脂蛋白受体相关蛋白5基因(LRP5)Q89R和A1330V多态性位点与骨密度的关系。方法采用PCR-限制性片段长度多态性(PCR-RFLP)方法检测安徽地区247名绝经后妇女LRP5基因Q89R和A1330V多态性位点的基因型,双能X线骨密度仪测定腰椎和股骨的骨密度。结果本研究人群中,LRP5基因Q89R和A1330V多态性呈连锁不平衡(χ2=24.48,P<0.01)。Q89R位点QR组的股骨颈、Wards三角和大转子区骨密度明显低于QQ组,A1330V位点AV/VV组的股骨颈骨密度明显低于AA组。在调整年龄、身高、体重、BMI以及绝经年限这些影响因素后,Q89R多态位点与股骨颈和大转子区骨密度显著相关(P<0.05),而A1330V多态性位点则与各位点的骨密度均无相关性。结论LRP5基因Q89R多态性位点可能对绝经后妇女骨密度有影响,提示LRP5基因是影响骨密度的候选基因之一。

Objective To investigate the association of Q 89 R and A 1330 V polymorphisms in low-density lipoprotein receptor-related protein 5 （LRP 5 ） gene with bone mineral density （BMD） in Anhui postmenopausal women. Methods Q 89 R and A 1330 V genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in 247 postmenopausal women in Anhui. BMD at lumbar spine 2-4 and the left proximal femur were measured by dual-energy X-ray absorptiometry in all subjects. Results Q 89 R and A 1330 V polymorphisms were in linkage disequilibrium in the subjects（x^2 = 24.48, P 〈 0.01 ）. BMD at the femoral neck, ward＇s and trochanter was significantly lower in subjects with Q 89 R QR genotype than in the combined group with QQ genotype. BMD at the femoral neck was significantly lower in subjects with A 1330 V AV/ VV genotype than those with AA genotype. Q 89 R polymorphism was significantly associated with BMD at the femoral neck and trochanter（ P 〈 0.05） after adjusting for age, height, weight, BMI and years since menopause. No significant association was found between A 1330 V polymorphism and BMD at any site after adjusting these impact factors. Conclusion Q 89 R polymorphism in LRP 5 gene may have an influence on BMD in postmenopausal women, which suggests that LRP 5 gene is a candidate for the genetic determination of BMD.