本文關(guān)鍵詞：肥胖表型全基因組印記連鎖掃描和候選基因關(guān)聯(lián)研究　出處：《湖南師范大學》2006年碩士論文　論文類型：學位論文

  更多相關(guān)文章： 肥胖 連鎖分析 基因印記 關(guān)聯(lián)分析 SNP LRP5

【摘要】：肥胖癥是一種體內(nèi)脂肪堆積過多而嚴重影響人類健康的疾病。常見的肥胖是一種多基因疾病或復雜疾病,既受遺傳的決定也受環(huán)境的影響,并且環(huán)境和遺傳因素之間以及基因之間都可能存在相互作用。體重指數(shù)、脂肪含量和脂肪百分比是肥胖的重要風險因子,并有很強的遺傳決定,遺傳率一般都高于0.5。大量的研究以這些性狀作為肥胖的替代表型。目前關(guān)于肥胖癥的致病基因的尋找已經(jīng)有大量的研究,主要包括全基因組掃描和候選基因的關(guān)聯(lián)研究。但是結(jié)果大都存在不一致性。有研究表明印記基因或者基因組對肥胖的致病機理有影響,有關(guān)肥胖的全基因組掃描中很少考慮基因印記的作用,因此本文的一個目的是:在多于4000人的大型家系樣本中進行全基因組掃描,并考慮基因印記的影響,在全基因組水平上以尋找肥胖的易感基因組區(qū)域。全基因組掃描的結(jié)果表明,染色體2q37有顯著的印記連鎖信號。在普通的連鎖掃描中得到的LOD值為2.23,當構(gòu)建母系印記效應連鎖掃描時,連鎖信號增加到3.34,該LOD值超過了本研究通過大量計算機模擬而確定的連鎖顯著性閾值。本研究還提示2q31、16q22、3p14、3q24和19q13幾個染色體區(qū)域可能對肥胖形成的遺傳有貢獻。本研究進一步證明了在連鎖統(tǒng)計遺傳研究中考慮基因組印記和表型定義方面的重要性。通過全基因組連鎖掃描尋找易感基因組區(qū)域是肥胖遺傳研究的重要的一方面,而直接研究候選基因與肥胖相關(guān)表型的關(guān)系也顯得非常重要。LRP5(低密度脂蛋白受體相關(guān)蛋白—5)基因,屬于細胞表面受體低密度脂蛋白受體家族成員之一,研究已經(jīng)證明LRP5在WNT信號通路中起重要作用,可能控制骨骼和眼睛的形成,同時對糖代謝和膽固醇代謝有著重要而顯著的作用。有研究發(fā)現(xiàn)LRP5基因的多態(tài)性與一些肥胖有關(guān)的復雜疾病或性狀相關(guān)聯(lián)。但是至今還沒有對LRP5基因多態(tài)性與肥胖癥之間關(guān)系的
[Abstract]:Obesity is an excessive accumulation of body fat and seriously affect human health. Common obesity is a polygenic disease or complex disease, both genetic decision is also affected by the environment, and between environmental and genetic factors and gene may interact with each other. The body mass index, fat content and fat percentage is an important risk factor for obesity, and have a strong genetic determination, genetic rate is generally higher than 0.5. a number of studies on these as the surrogate phenotypes of obesity. The causative gene for obesity have been studied, including the association of whole genome scan and candidate gene. But the results are not consistency. Studies have shown that imprinted genes or genomes on the pathogenic mechanism of obesity may influence the whole genome scan about obesity is rarely considered genetic imprinting The effect, so a purpose of this paper is: a genome-wide scan was performed in a large pedigree sample of more than 4000 persons, and considering the effects of gene imprinting, at genomic level to find susceptibility of obesity. Genomic regions of whole genome scan results showed that chromosome 2q37 significant imprinting linkage signal. In general the linkage scan LOD value in 2.23, when the construction of the chain effect of maternally imprinted scan, linkage signal increased to 3.34, the LOD value exceeds this research through a large number of computer simulations to determine the significant linkage threshold. This research also suggests that the genetic region on chromosome 2q31,16q22,3p14,3q24 and 19q13 may be involved in the development of obesity contribution. This study further proves that considering the importance of genomic imprinting and phenotype definition in the study. Through the statistical genetic linkage whole genome linkage scan to find susceptibility Genomic region is an important aspect of obesity research, while to directly study the relationship between candidate gene and obesity related phenotypes is also very important for.LRP5 (low density lipoprotein receptor related protein 5) gene, belonging to the cell surface receptor of low density lipoprotein receptor family members of one of the studies have shown that LRP5 plays an important role in WNT the signaling pathway, may regulate bone and eye development, at the same time have significant effect on glucose metabolism and cholesterol metabolism. Studies have found that LRP5 gene polymorphism is associated with obesity related complex diseases or traits. But there is no relationship between LRP5 gene polymorphism and obesity

【學位授予單位】：湖南師范大學
【學位級別】：碩士
【學位授予年份】：2006
【分類號】：R346

【引證文獻】

相關(guān)碩士學位論文 前2條

1 喻銀;PCOS胰島素抵抗相關(guān)代謝特征分析及LRP-5基因SNP多態(tài)性與PCOS相關(guān)性研究[D];中南大學;2007年

2 曾銘華;PCOS患者代謝特征和藥物療效評估及LRP-5基因（rs3736228）多態(tài)性與PCOS相關(guān)性研究[D];中南大學;2008年

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本文編號：1394510