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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。
Objective To investigate the relationship between the ApaⅠ polymorphism of vitamin D receptor (VDR) gene and peak bone mineral density (BMD) in Chinese nuclear family women. Methods A total of 401 nuclear families in Shanghai were collected from Han parents and at least one healthy daughter (aged 20-40 years). Dual energy X-ray absorptiometry was used to measure the BMD (g / cm2) of lumbar spine 1-4 and the femoral neck, greater trochanters, intertrochanteric, total hip and Ward s triangle. PCR-RFLP method was used to analyze the ApaⅠ polymorphism of VDR gene in all subjects. ANCOVA and quantitative trait loci (QTDT) were used to analyze the relationship between ApaⅠ polymorphism and BMD, linkage analysis and linkage analysis. Results The frequency distribution of genotypes conformed to Hardy-weinberg equilibrium law. ANCOVA showed that ApaⅠ polymorphism of VDR gene was correlated with peak BMD of lumbar spine in women (P = 0.407). No correlation was found between ApaⅠ polymorphism of VDR gene and BMD of lumbar and proximal femur in QTDT analysis. Conclusion This study suggests that there is no association between the ApaⅠ polymorphism of VDR gene and the peak BMD variation in Shanghai. The ApaⅠ polymorphism of VDR gene is not a quantitative trait locus for the peak BMD variation of Han women in Shanghai.