护骨素基因启动子区T950-C多态性与骨密度及骨代谢的关系

目的探讨绝经后汉族妇女护骨素(OPG)基因启动子区T^950-C多态性与骨质疏松症和骨代谢的关系。方法应用PCR—RFLP测定随机选取的73例绝经后骨质疏松症妇女和61例绝经后正常妇女OPG基因T^950-C的基因型，双能X线骨吸收方法分别测腰椎各椎体和股骨颈髋部的BMD，放射免疫分析法测骨代谢指标。结果所选人群OPG基因T^950-C基因型频率分布在骨质疏松症和绝经正常妇女均符合Hardy-Weinberg定律，而且其基因型在两组研究对象中分布差异无显著性，但汉族妇女T^950-C基因型分布与高加索人种妇女相比有明显差异。在骨质疏松症组CC型的股骨颈BMD低于TT型和TC型，而绝经后正常妇女三种基因型之间BMD无差异。结论OPG基因T^950-C基因型分布存在明显的种族差异。OPG基因T^950-C多态性不能作为中国汉族妇女是否发生骨质疏松症的遗传标志，但对于患有骨质疏松症的中国汉族妇女CC型却能预测骨骨质疏松症的患病程度。

Relationships among single T950-C mutation polymorphism in the promoter region of the osteoprotegerin gene, bone mineral density and metabolism

Objective To investigate the relationship among T~950 -C polymorphism genotype in the promoter region of the osteoprotegerin (OPG) gene, osteoporosis and bone metabolism in postmenopausal women. Methods T~950 -C polymorphism genotype was determined by PCR-RFLP in 73 postmenopausal women with osteoporosis and 61 postmenopausal healthy women selected randomly. BMD of lumbar spines and femoral neck, Ward's and trochanteric areas were measured by dual energy X-ray absorptiometry. Bone metabolism indexes were measured by radioimmunoassay. Results The distribution of T~950 -C genotype in OPG gene in the postmenopausal women with osteoporosis and the postmenopausal healthy women accorded with Hardy-Weinberg equilibrium, and there was significant difference between two groups. But there was significant difference in T~950 -C polymorphism genotype between Han nationality women and Caucasia women. In the postmenopausal osteoporosis women, BMD of femoral neck was significantly lower in individuals with CC genotype compared with that in individuals with TT genotype and TC genotype. In the postmenopausal healthy women, BMD were not found significant differences among three genotypes. Conclusions T~950 -C polymorphism genotype distribution of OPG gene had evident race diversity. T~950 -C polymorphism in the promoter region of the osteoprotegerin gene could not be used as genetic marker in predicting whether or not developing osteoporosis in Chinese women of Han nationality, but CC genotype could forecast the suffering degree of the postmenopausal women with osteoporosis of Han nationality.