体脂比率与OPG基因启动子G209-A和T245-G多态性联合作用与骨质疏松症发生的关系

目的探讨护骨素(OPG)基因启动子区G209-A和T245-G多态性及其脂肪保护作用、联合作用对绝经后正常妇女和绝经后骨质疏松症妇女骨密度(BMD)的影响。方法随机抽取25个样本经SSCP-PCR法寻找异常迁移条带,再采用测序方法确定扩增区域中的单核苷酸点突变位点,最后采用PCR-限制性片段长度法(RFLP)对所有样本进行分析;双能X线吸收法测定BMD。结果73例绝经后骨质疏松症妇女和61例绝经后正常妇女OPG启动子扩增区中找到两个单核苷酸点突变多态性位点,G209-A和T245-G。分析显示这两个多态性位点基因型频率在两组实验对象中的分布均符合Hardy-Weinberg定律。G209-A和T245-G多态性位点单一基因型和复合基因型的分布在两组实验对象之间没有显著性差异(P>0.05)。对各单一基因型及其复合基因型的BMD分析显示:绝经后骨质疏松症妇女的腰椎和髋部BMD明显低于绝经后正常妇女,同时,绝经后骨质疏松症妇女的全身体脂比率也明显低于正常妇女。结论G209-A和T245-G多态性对绝经后骨质疏松症和绝经后正常妇女的骨量影响没有协同作用;单一的和复合的G209-A、T245-G多态性各基因型不能作为预测中国汉族妇女是否发生骨质疏松症的遗传标志,但可能是骨质疏松症发生的易感基因,并且合理的含脂饮食有利于骨保护。

The relationship between body fat ratio combined with G209-A and T245-G polymorphism of osteoprotegerin promoter region and osteoporosis

Objective To investigate the effect of combination G209-A and T245-G polymorphism of osteoprotegerin(OPG) promoter region with whole fat ratio on bone mineral density(BMD) of postmenopausal osteoporosis(OP) and postmenopausal healthy women.Methods 25 samples were randomly selected to find shifted patterns by SSCP-PCR and their sequences were determined by cycle sequencing.The G209-A and T245-G polymorphism genotypes were determined by PCR-RFLP in 73 postmenopausal OP women and 61 postmenopausal healthy women.BMD of lumbar spines and femoral neck,Ward and trochanteric areas were measured by dual energy X-ray absorptiometry.Results Hardy-Weinberg equilibrium was evidence for G209-A and T245-G polymorphism in the postmenopausal OP women and the postmenopausal healthy women.Both single and complex genotype frequencies of the G209-A and T245-G polymorphism did not show difference between postmenopausal OP women and postmenopausal healthy women.The BMDs of the postmenopausal OP women were significantly lower than that of the postmenopausal healthy women in lumbar spines and femoral neck,and body fat ratio of the postmenopausal OP women were also significantly lower than that of the postmenopausal healthy women.Conclusions The G209-A and T245-G polymorphism has not synergistic effect on BMDs of both postmenopausal OP and postmenopausal healthy women.The single and complex genotypes of G209-A and T245-G polymorphism may not be used as genetic markers in predicting their risk of developing OP in Chinese Han nationality women,but may be susceptible gene of OP in Chinese Han nationality women.