中文摘要：

目的研究维生素D受体（VDR）和降钙素受体（CTR）基因多态性与新疆地区汉族女性人群骨密度（BMD）的关系，探讨原发性骨质疏松症发病的遗传易感因素。方法采用聚合酶链反应（PCR—RFLP）限制性片段长度多态性技术，对336例新疆地区汉族女性人群的VDR和CTR基因进行多态性分析，双能X线吸收法测定受试者L2～4、ward’s三角、大粗隆、股骨干4个部位的BMD值，比较不同基因型各部位BMD值的差异。结果（1）336例受试者VDR、CTR受体基因型频率分布均符合Hardy—Weinberg定律，90例骨质疏松组与246例非骨质疏松组VDR与CTR基因型分布频率差异无统计学意义（P〉0．05）。（2）年龄与不同部位BMD值之间呈负相关（P〈0．05），体质指数与BMD值之间呈正相关（P〈0．05），在将年龄和体质指数进行校正后发现非骨质疏松组中CTRCT基因型在Ward’s三角的BMD值高于CC基因型（P〈0．05）；VDRBb基因型在L2-4、Ward’s三角部位BMD均低于bb型（P〈0．05），Bh基因型的BMD值在大粗隆、股骨干部位较bb型有降低趋势（P〉0．05）；VDR—CTR复合基因CCBb型的BMD值最低。结论年龄与BMD值变化密切相关；体质指数是新疆汉族女性非骨质疏松的保护性因素，适当增加体重对防治骨质疏松有积极的意义；VDRBb基因型与BMD降低密切相关；VDR—CTR复合基因CCBb型可作为预测新疆地区女性发生骨质疏松危险性的遗传学标志。

英文摘要：

Objective To investigate the associations of bone mineral density （BMD） with vitamin D receptor （VDR） gene and calcitonin receptor （CTR） gene polymorphisms in Han women from Xinjiang; and to discuss the genetic susceptibility factors of osteoporosis （OP）. Methods VDR and CTR genotypes were identified with polymerase chain reaction -restriction fragment length polymorphism （PCR -RFLP） , so as to analyze distribution of VDR and CTR poly- morphisms of 336 Hart women from Xinjiang. BMD was measured by dual energy X- ray absorptiometry （DEXA） at the lumbar spine （L2-4） , Ward＇s triangle, great trochanter, and femoral shaft. Comparing the differences of BMD values of different locations among different genotypes. Results A total of 336 women were included in the study. The distributions of VDR and CTR genotypes met Hardy - Weinberg equilibrium （ all P 〉 0.05 ） ; and there was no significant difference in VDR or CTR genotype frequency between osteoporosis group （ n = 90 ） and non - osteoporosis group （ n = 246 ） （ P 〉 0. 05 ）. We also found that BMD values of different locations were significantly negatively correlated with age （ P 〈 0. 05 ） and positively correlated with body mass index （BMI） （ P 〈 0. 05 ）. When BMD were adjusted by age and BMI, the women with CT genotype of CTR gene had a higher adjusted BMD than CC genotype at Ward＇s triangle （ P 〈 0. 05 ） in non - osteoporosis group. The adjusted BMDs at L2-4 and Ward＇s triangle were significant lower in the women with Bb geno- type of VDR gene compared to the bb genotype （ P 〈 O. 05 ）. Compared to the bb genotype at great troehanter and femoral neck in non - osteoporosis group, the adjusted BMDs showed a decreasing tendency in women with Bb genotype. The ad- justed BMD of CCBb genotype was the lowest. Conclusion Age is closely correlated to the change of BMD. BMI is a protective factor for OP in Hart women in Xinjiang, and increasing weight may have a positive effect on preventing an