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三、寻找决定骨质密度基因的分子遗传学研究 1.候选基因的关联分析:对导致骨质疏松风险的基因鉴定,开始于维生素D受体基因(VDR)与脊柱和髋骨骨质密度相关联的报道。从那以后,大量关于候选基因的分子标记与骨质密度变异相关联的论文不断出现。不同学科(例如分子生物学、细胞生物学)对骨学的几十年研究,揭示越来越多的基因对骨骼生物学有重要作用。同时,一些与人类骨骼直接相关的重要候选基因的功能,以及它们和骨质密度之间的关联性研究结果已有全面的总结,在这不作类似介绍。 但是,我们首先得申明,关联分析中结果没有显著性并不能证明该候选基因不重要。而且从群体的关联分析得到的数据可用于排除分析正式地排除某一候选基因。我们提出和发展了一种针对复杂疾病和数量性状的排除分析法,并把它运用到了与骨质密度和骨质疏松性骨折相关的维生素D受体基因和雌激素受体基因的分析中。同时,由于群体的混合可能导致
Third, to find the molecular genetic determinants of bone density 1. Genetic analysis of candidate genes: Gene identification of the risk of osteoporosis, began in the vitamin D receptor gene (VDR) and spine and hip bone mineral density United report. Since then, numerous papers have been published on the association of molecular markers of candidate genes with variations in bone density. Decades of study of osteology by different disciplines (eg, molecular biology, cell biology) reveal that more and more genes play an important role in bone biology. At the same time, the results of some studies on the function of some important candidate genes that are directly related to human skeleton and the correlation between them and bone density have been comprehensively summarized. However, we must first affirm that the results of the association analysis are not significant and can not prove that the candidate gene is not important. Moreover, the data obtained from the population association analysis can be used for exclusion analysis to formally exclude a candidate gene. We proposed and developed an exclusion analysis of complex diseases and quantitative traits and applied it to the analysis of vitamin D receptor and estrogen receptor genes associated with bone density and osteoporotic fractures. At the same time, this may result from the mix of groups