北京地区汉族妇女维生素D受体基因和降钙素受体基因多态性与骨密度的关系

Association of vitamin D receptor gene and calcitonin receptor gene polymorphisms with bone mineral density in women of the Han nationality in Beijing area

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 association of vitamin D receptor gene start codon (VDRSC) and calcitonin receptor (CTR) genotypes with peak bone mass in women aged 30～39 years and bone mineral density (BMD) and fracture in postmenopausal women. Methods The VDRSC and CTR genotypes were determined by PCR RFLP in 89 healthy women aged 30～39 years and 127 postmenopausal women of the Han nationality in Beijing area. BMD was measured by dual energy X ray absorptiometry. Results Hardy Weinberg equilibrium was evident for both VDRSC and CTR polymorphisms. VDRSC and CTR genotype frequencies did not show difference between osteoporosis and/or fracture cases and age matched controls. No associations were found between VDRSC genotypes and BMD in the group of women aged 30～39 years or group of postmenopausal women. Women aged 30～39 years with CC genotype had significant lower L 2 4 and trochanter BMD in comparison with TC genotype (P<0.05). However, no association was observed between CTR genotypes and BMD in postmenopausal women. Women aged 30～39 years with TCFF genotype had significant higher peak bone mass in the L 2 4 and trochanter (P<0.05), and the association of peak bone mass with CTR genotypes was not influenced by VDRSC genotypes. Conclusion VDRSC polymorphism does not potentially influence peak bone mass in women aged 30～39 years and BMD in postmenopausal women. The attainment and maintenance of peak bone mass are associated with CTR genotype in women aged 30～39 years but independent of VDRSC polymorphism. VDRSC and CTR genotypes may not be used as genetic markers in predicting their risk of developing osteoporosis in Chinese women of the Han nationality.