骨密度和身高的遗传学研究以及二者之间的相关性分析

发布时间：2018-06-13 03:22

  本文选题：骨密度(BMD) + 侯选基因　； 参考：《湖南师范大学》2005年硕士论文

【摘要】：骨质疏松症(Osteoporosis)是一种发病率高且危害严重的骨骼系统相关的复杂疾病,低骨密度(Bone mineral density,BMD)是其重要的风险因子。大量的研究表明BMD的变异受到很强的遗传影响。成人身高作为一个重要的身体发育参数指标,已经在很多人群中展开了研究。身高的遗传率一般大于50%,是较高遗传率的人类复杂性状之一。身高、体重、BMD和骨大小均受到遗传因子、环境因子以及它们之间相互作用的影响。在人群的骨表型关联研究中通常采用身高和体重去校正作为表型。然而,目前还不清楚这些人体测量指标和骨表型在多大程度上共享遗传因子和环境因子。本研究的主要目的是:1)采用数量传递不平衡检测(quantitative transmissiondisequilibrium test,QTDT)法,对157个白种核心家庭的665个样本,进行雌激素受体α(estrogen receptor α,ER-α)基因(包括PvuⅡ和XbaI)、α2巯基糖蛋白(alpha2-HS glycoprotein,AHSG)基因(包括NlaⅢ和SacI)、和转化生长因子β1(transforming growth factor beta 1,TGF-β1)基因(包括单个的分子标记和由每个基因内的分子标记构建的单体型)与腰椎和整个髋部的关联和连锁分析;2)在79个白种扩展家系的1816个样本中,采用SOLAR对身高的两个侯选区域(6q24-25和7q31.3-36)进行连锁排除分析;3)在292个中国核心家庭的931个年龄范围为19-79岁的样本中,采用双变量数量遗传分析法对骨表型(腰椎和整个髋部的BMD和骨大小)与人体测量指标(身高和体重)的遗传和环境相关性展开研究。我们研究的结果为1)家庭内关联存在于腰椎BMD和AHSG基因的NlaⅢ(P=0.036)多态位点、腰椎BMD和AHSG基因的SacⅠ(P=0.005)多态位点、髋部BMD和TGF-β1基因的BstuI(P=0.035)多态位点、腰椎BMD和AHSG基因的单体型NS(P=0.009)和单体型ns(P=0.012)间。阳性的家庭内关联通过了1000次的置换检验;2)6q24-25区域被排除对身高拥有10%或更大的作用大小(p值0.0005),7q31.3-36被排除对身高拥有5%或更大的作用大小(p值0.0018);3)体重和腰椎BMD、
[Abstract]:Osteoporosis is a complex disease related to bone system with high incidence and serious damage. Low bone mineral density (BMD) is an important risk factor. A large number of studies have shown that the variation of BMD is strongly influenced by heredity. As an important parameter of body development, adult height has been studied in many people. The heritability of height is generally greater than 50, is one of the higher heritability of human complexity. Height, weight, BMD and bone size were all affected by genetic factors, environmental factors and their interactions. Height and weight are commonly used as phenotypes in bone phenotypic association studies. However, it is not clear to what extent these anthropometric indicators and bone phenotypes share genetic and environmental factors. The main purpose of this study was to use the quantitative transmissiondisequilibrium test (QTDTT) method to measure the disequilibrium of quantity transfer in 665 samples of 157 white nuclear families. The estrogen receptor 伪 -ER- 伪 gene (including PVU 鈪，

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