【摘要】 目的探讨维生素D受体(VDR)基因ApaⅠ多态性与中国核心家庭女性峰值骨密度(BMD)的关系。方法收集上海市401个由汉族父母双亲和至少一个健康女儿(年龄在20~40岁)组成的核心家庭。运用双能X线吸收仪测量女儿腰椎1~4和股骨颈、大转子、粗隆间、总髋部及Ward s三角的BMD值(g/cm2)。PCR-RFLP方法分析所有研究对象VDR基因ApaⅠ多态性。用协方差分析(ANCOVA)和数量性状位点传递非平衡测验法(QTDT)对ApaⅠ多态性与BMD进行相关、连锁和相关模型下的连锁分析。结果基因型频率分布符合Hardy-weinberg平衡定律。ANCOVA显示VDR基因ApaⅠ多态性与女性腰椎峰值BMD相关(P=0·047);QTDT分析未发现VDR基因ApaⅠ多态性与腰椎及股骨近端各部位BMD值的相关和连锁。结论本研究提示VDR基因ApaⅠ多态性与上海市女性峰值BMD值变异无关联和连锁。VDR基因ApaⅠ多态性不是上海市汉族女性峰值BMD值变异的数量性状位点。更多还原

【Abstract】 ?Objective To investigate the relationship between vitamin D receptor(VDR)gene Apa Ⅰ polymorphism and peak bone mineral density(BMD)variation in Chinese nuclear families.Methods A total of 401 nuclear families composed of both parents and at least one healthy daughter aged from 20 to 40 of Han nationality with a total of 1,261 individuals were recruited in the study.All the subjects are native residents in Shanghai city.BMD at the lumber spine and femoral neck,trochanter,intertrochanter region,total hip and ward’s triangle were measured by dual-energy X-ray aborptionmetry in each subject.Polymorphism for Apa Ⅰ inside VDR gene was detected by polymorase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The analyses of covariance(ANCOVA)and Quantitative trait locus transmission disequilibrium test(QTDT)approaches were used to simultaneously test the association and linkage between Apa Ⅰ polymorphism in VDR gene and BMD variation.The raw BMD values were adjusted for age,height and weight.Results Frequencies distribution of alleles followed as Hardy-weinberg equilibrium.The significant association between the spine BMD variation and VDR gene Apa Ⅰ polymorphism was found using ANCOVA(P=0.047).Using the program QTDT,no significant population stratification was found at the spine and proximal femur BMD.For the association test,no significant effect of the VDR genotypes on spine or hip BMD was detected.When testing for linkage while simultaneously modeling association,no linkage between spine and hip BMD and polymorphism was found.Conclusions Apa Ⅰ polymorphism in the VDR is not the quantitative trait loci(QTL)underlying peak bone mineral density variation in Shanghai Chinese women.更多还原