维生素D受体基因多个位点多态性与绝经后妇女骨密度及骨转换生化标志物的关系

Association of genetic polymorphisms in several vitamin D receptor gene sites with bone mineral density and biochemical markers of bone turnover in postmenopausal women

目的:观察维生素D受体基因BSMⅠ,TAQⅠ,APAⅠ多态性与绝经后妇女骨密度及骨转换生化标志物的相关性。方法:①2007-01/2008-12从福州常住汉族人中随机检测绝经后妇女576例,年龄48～84(62.17±6.37)岁。受试者均知情同意。②记录年龄、绝经年限、体质量指数和绝经后骨折情况。③双能X射线骨密度仪检测正位第2～4腰椎、左侧股骨颈、大转子和Ward’s三角区骨密度。④PCR-RFLP技术检测维生素D受体基因BSMⅠ,TAQⅠ,APAⅠ多态性。⑤用酶联免疫吸附法检测骨转换生化标志物(血清骨钙素、血清骨碱性磷酸酶、尿吡啶啉和尿脱氧吡啶啉)。结果:561例合格受试者进入结果分析。①维生素D受体基因BSMⅠ,TAQⅠ,APAⅠ多态性各基因型间骨密度比较差异无显著性意义(P>0.05)。②维生素D受体基因BSMⅠ,TAQⅠ,APAⅠ多态性各基因型间骨转换生化标志物比较差异无显著性意义(P>0.05)。③维生素D受体基因BSMⅠ,TAQⅠ,APAⅠ多态性各基因型间骨质疏松症发生率比较差异无显著性意义(P>0.05)。④维生素D受体基因BSMⅠ,TAQⅠ,APAⅠ多态性各基因型间绝经后骨折发生率比较差异无显著性意义(P>0.05)。结论:维生素D受体基因BSMⅠ,TAQⅠ,APAⅠ多态性与绝经后骨质疏松症无明显关联,不能作为福州地区绝经后妇女骨质疏松的遗传标志。

OBJECTIVE： To study the association of the vitamin D receptor gene BSM I, TAQ I and APA I genetic polymorphisms with bone mineral density and biochemical markers of bone turnover in postmenopausal women. METHODS： （1）A total of 576 postmenopausal Han ethnic women of 48-84 （62.17±6.37） years old in Fuzhou city were investigated, on the basis of their informed consent, through random sampling method from January 2007 to December 2008. （2）The subjects were recorded regarding to their age, menopause duration, body mineral index and postmenopausal fracture incidence. （3）Dual energy X-ray absorptiometry was used for measuring the bone mineral density of vertebrae L24, left femoral neck, trochanter and Ward＇s triangle. （4）The genetic polymorphisms of vitamin D receptor gene BSM I, TAQ 1 and APA I were detected using polymerase chain reaction-restriction and fragment length polymorphism （PCR-RFLP） technique. （5）The biochemical markers of bone turnover （serum bone gla protein, serum bone alkaline phosphatase, urinary pyridinoline and urinary deoxypyridinoline） were detected with enzyme linked immunosorbent assay. RESULTS： A total of 561 subjects up to standard were involved in the result analysis. （1）There was no significant difference in bone mineral density among genotypes of vitamin D receptor gene BSM I, TAQ I and APA I polymorphisms （P 〉 0.05）. （2）There was no significant difference in the biochemical markers of bone turnover among genotypes of BSM I, TAQ I and APA I polymorphisms （P 〉 0.05）. （3）There was no significant difference in the incidence of osteoporosis among genotypes of BSM I, TAQ I and APA I polymorphisms （P 〉 0.05）. （4）There was no significant difference in the incidence of postmenopausal fracture among genotypes of BSM I, TAQ I and APA Ipolymorphisms （P 〉 0.05）. CONCLUSION： BSM I, TAQ I and APA I polymorphisms of the vitamin D receptor gene are not obviously associated with osteoporosis in postmenopausal women, and accordingly can not be taken as genetic markers of osteoporosis in postmenopausal women in Fuzhou.