中国人群骨表型的相关分析及白介素6（IL-6）基因与骨表型关系的研究

发布时间：2018-02-24 09:22

本文关键词： 骨表型遗传相关环境相关表型相关 IL-6基因数量性状传递不平衡检测(QTDT)　出处：《湖南师范大学》2005年硕士论文　论文类型：学位论文

【摘要】：骨质疏松症已经成为世界范围的重要健康问题。骨矿含量(Bonemineral content,BMC)、骨密度(Bone mineral density,BMD)和骨大小(Bone Size)是骨质疏松症研究的三个重要替代表型,大量的遗传学研究都集中在寻找与BMC和BMD变异相关的基因,然而鉴定与骨大小变异相关基因的研究却很少。白介素6(Interleukin-6,IL-6)是参与破骨细胞的分化及功能的一种多效细胞因子。本研究的目的有两个方面:一方面,通过双变量方差成分分解分析法估计中国核心家庭中BMD,BMC和骨大小之间的遗传(ρ_G)、环境(ρ_E)以及表型相关(ρ_P);另一方面,利用数量性状传递不平衡检测(QTDT)法检测IL-6基因(CA)n位点与BMD和骨大小的关联和连锁。本研究所有的研究样本均来自401个中国核心家庭。腰椎和髋部的BMC(g)、BMD(g/cm~2)和骨大小(cm~2)均采用双能X射线骨密度仪(Dual-energy X-ray Absorptiometry,DXA)测量得到。IL-6基因(CA)n位点的基因型用PE377测序仪及相关软件得到。结果显示,除了髋部BMD和骨大小的ρ_E不显著(p=0.361)外,BMD、BMC和骨大小间的ρ_E、ρ_G和ρ_P均显著。同一部位BMD和BMC的变异大部分由共同的遗传和环境因子决定。BMD和BMC之间的环境、遗传和表型相关系数在腰椎分别0.872、0.928和0.897,髋部分别为0.745、0.775和0.752。腰椎BMD和BMC遗传变异的86.1%和髋部BMD和BMC遗传变异的60%是由共同的遗传因素引起的。然而引起同一部位BMD和骨大小变异的共同的遗传和环境因素非常少。共同的遗传因素仅能解释腰椎BMD和骨大小变异的14.5%以及髋部BMD和骨大小变异的4.2%;此外,ρ_E、ρ_G和ρ_P在腰椎和髋部有位点特异性,特别是
[Abstract]:Osteoporosis has become an important health problem worldwide. Bone mineral content (BMC), bone mineral density (BMD) and bone size bone (BSE) are three important alternative phenotypes in the study of osteoporosis. A lot of genetic research has focused on finding genes associated with BMC and BMD mutations. However, the identification of genes associated with bone size variation is rare. Interleukin-6interleukin-6 (IL-6) is a multipotent cytokine involved in the differentiation and function of osteoclasts. The purpose of this study is twofold: on the one hand, interleukin 6 is a multipotent cytokine involved in the differentiation and function of osteoclasts. The genetic and phenotypic correlations between BMD-BMC and bone size in Chinese nuclear families were estimated by means of bivariate variance component decomposition analysis (BMD-BMC) and bone size. The association and linkage of IL-6 gene with BMD and bone size were detected by quantitative trait transfer disequilibrium (QT DTT) method. In this study, all the samples were obtained from 401 Chinese nuclear families. The genotypes of the loci of the. IL-6 gene were measured by dual energy X-ray absorptiometry (Dual-energy X-ray absorptiometry DXA). The results showed that the genotypes of the alleles of the. IL-6 gene were sequenced by PE377 sequencer and related software. Except for BMD of hip and 蟻 _ S of bone size, there was significant difference between BMD-BMC and bone size. The variation of BMD and BMC in the same area was mostly determined by the common genetic and environmental factors. The environment between BMD and BMC was determined by common genetic and environmental factors. The genetic and phenotypic correlation coefficients of lumbar vertebrae were 0.928 and 0.897, respectively, and those of hip were 0.775 and 0.752.The genetic variation of BMD and BMC in lumbar vertebrae and 60% of BMD and BMC in hip were caused by common genetic factors. However, BMD occurred at the same site. The common genetic and environmental factors of bone size variation are very few. The common genetic factors can only explain the lumbar spine BMD and bone size variation 14.5% and hip BMD and bone size variation 4.2. In addition, 蟻 E, 蟻 S G and 蟻 P have locus specificity in lumbar spine and hip. In particular,
【学位授予单位】：湖南师范大学
【学位级别】：硕士
【学位授予年份】：2005
【分类号】：Q987

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