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 polymorphisms of 336 Han 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 genotype of VDR gene compared to the bb genotype (P<0.05).Compared to the bb genotype at great trochanter and femoral neck in non-osteoporosis group, the adjusted BMDs showed a decreasing tendency in women with Bb genotype.The adjusted 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 Han women in Xinjiang, and increasing weight may have a positive effect on preventing and treating osteoporosis.Bb genotype of VDR is associated with lower BMD.Compound CCBb genotype may be regarded as a genetic marker to predict the risk of osteoporosis in Han women in Xinjiang.%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CTR CT基因型在Ward′s三角的BMD值高于CC基因型(P<0.05);VDR Bb基因型在L2~4、Ward′s三角部位BMD均低于bb型(P<0.05), Bb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;VDR Bb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.
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