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目的 探讨维生素D受体基因起始密码子 (VDRSC)和降钙素受体 (CTR)基因多态性与 30～ 39岁健康妇女峰值骨量和绝经后妇女骨密度 (BMD)及骨折的关系。方法 应用PCR RFLP方法测定 89名 30～ 39岁健康妇女和 12 7名绝经后妇女VDRSC及CTR基因型 ;用双能X线吸收法测定BMD。结果 本研究人群VDRSC和CTR基因型频率分布均符合Hardy Weinberg定律。 6 6例骨质疏松伴 (或 )骨折组与 6 1名正常绝经后妇女组VDRSC和CTR基因型频率分布差异无显著性 ;VDRSC多态性与 30～ 39岁妇女峰值骨量和绝经后妇女BMD值均无关联 ;30～ 39岁妇女组CTRTC基因型在L2 4和大转子区BMD值高于CC基因型的对应部位 (P <0 .0 5 ) ,CTR基因型与绝经后妇女BMD值无关联 ;协同分析VDRSC和CTR基因型与BMD的关系显示 ,30～ 39岁妇女组TCFF基因型在L2 4和大转子区有较高的峰值骨量 (P <0 .0 5 ) ,但是VDRSC多态性与CTR基因型对妇女峰值骨量的影响无协同作用。结论 VDRSC多态性对 30～ 39岁妇女峰值骨量及绝经后妇女BMD无潜在影响 ;CTR基因型与 30～ 39岁妇女峰值骨量的达到和维持有关 ,而且独立于VDRSC基因型 ;VDRSC和CTR基因型不能作为预测中国汉族妇女发生骨质疏松危险性的遗传学标志。
Objective To investigate the relationship between VDRC and CTR gene polymorphisms and the peak bone mass (BMD) and bone mineral density (BMD) in healthy women aged 30-39 years and postmenopausal women . Methods VDRSC and CTR genotypes were determined by PCR RFLP in 89 healthy women aged 30-39 and 12 7 postmenopausal women. BMD was measured by dual-energy X-ray absorptiometry. Results The frequencies of VDRSC and CTR genotypes in this study all fit Hardy-Weinberg’s law. VDRSC and CTR genotype frequencies were not significantly different between 6 osteoporotic (or) fracture group and 6 1 normal postmenopausal women. VDRSC polymorphism was associated with peak bone mass in women aged 30-39 and postmenopausal women The BMD of CTRTC genotype in L2 ~ 39 and the greater trochanter was significantly higher than that of CC genotype (P <0.05) in the age group of 30 ~ 39 years old. The CTR genotype was significantly correlated with the BMD of postmenopausal women The association between VDRSC and CTR genotypes and BMD showed that TCFF genotypes in women aged 30-39 had higher peak bone mass in L2 4 and greater trochanter (P <0.05), but VDRSC Polymorphisms and CTR genotypes had no synergistic effect on peak bone mass in women. Conclusion VDRSC polymorphism has no effect on the peak bone mass of women aged 30-39 years and the BMD of postmenopausal women. The CTR genotype is related to the achievement and maintenance of peak bone mass in women aged 30-39 years, and is independent of the VDRSC genotype; VDRSC and The CTR genotype can not be used as a genetic marker to predict the risk of osteoporosis in Han Chinese women.