哈尔滨地区部分汉族人群维生素D受体BsmⅠ基因多态性与骨质疏松性骨折关系的研究

Analysis of relationship between vitamin D receptor gene polymorphism and osteoporotic fracture

目的旨在了解哈尔滨地区部分汉族人群维生素D受体(VDR)BsmⅠ基因多态性与骨质疏松性骨折患者骨密度(BMD)的相关关系。方法98例研究对象按骨质疏松性骨折诊断标准分2组,骨量正常组:48人;骨质疏松性骨折组:50人。聚合酶链反应限制性片断长度多态性(PCR-RFLP)技术检测98例受试者VDRBsmⅠ基因型。测试受试者腰椎2～4(L2-4),股骨颈(Neck)、大转子(Troch)、Wards三角、桡骨远端(Radius)5个部位骨密度(BMD)。结果骨折组各部位骨密度均显著低于对照组各部位骨密度,差异具有显著性(P<0.01)。受试者VDR基因型未发现BB型,检出Bb型16人,占16.3%,bb型82人,占83.7%。b和B等位基因频率分别为91.8%、8.2%,Bb、bb两基因型在两组之间的分布无差异;VDR两基因型与各部位BMD之间,虽然在腰椎2～4、股骨颈、大转子和桡骨远端等4个部位Bb基因型比bb基因型的BMD高,但结果没有统计学意义。结论这组哈尔滨地区人群VDR基因型分布以bb型、Bb型为主,VDR基因BsmⅠ多态性与骨密度之间没有相关关系。

Objective To investigate the relationship between the vitamin D receptor gene polymorphism and bone mineral density （BMD） of osteoporotic fracture in Han nationality in Harbin. Methods The 98 subjects in Harbin district were divided into fracture and control groups. The patterns of VDR gene of 98 subjects were identified by polymerase chain reaction chain reaction-restriction fragment length polymorphism and bone mineral density （BMD） of all of them were determined by dual-energy X-ray absorptionetry （include lumbar 2 - 4, thighbone neck, wards triangle, troch, radius）. Results There have significant difference of BMD at any sites in fracture and control groups （ P 〈 0.01 ） ,The frequency distribution of genotypes bb, Bb, BB was 83.7%, 16.3% ,0%, respectively. The b allelic frequencies reached as high as 91.8 % . There was no difference in two groups. X^2 analysis indicated that there was no connection between osteoporotic fracture and VDR Bsm Ⅰ. Through the comparison between control groups and osteoporotic fracture in lumbar, thighbone neck and radius, it showed that there was not significant difference in Bb and bb genotypes. Conclusion The majority VDR gene of 98 subjects in Harbin are Bb and bb and there was no connection between osteoporotic fracture and VDR Bsm Ⅰ.