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PLoS Genet:GWAS分析找到狗狗体内的恶性脑瘤风险基因

来源:生物谷 2016-05-16 14:35

                                                                    
2016年5月16日讯 /生物谷BIOON/ --最近一项研究以犬为研究对象展开了对胶质瘤形成背后隐藏的遗传因素的研究,或为解释人类胶质瘤形成,找到治疗方法提供线索。该研究在25个犬种中发现了三个与胶质瘤形成有关的基因。相关研究结果发表在国际学术期刊Plos Genetics上。
 
胶质瘤是人类最常见的恶性原发性脑瘤,也是犬中第二常见的恶性原发性脑瘤类型。一些犬种,比如拳师犬,斗牛犬以及波士顿小猎犬发生胶质瘤的风险相对更高,而其他一些犬种则不存在这种情况,这表明一些特定基因可能影响了胶质瘤的形成。文章作者表示:"我们目前正在对已经发现的相关基因进行进一步分析,希望能够对这些基因在犬和人类胶质瘤发生发展过程中发挥的功能性作用有所了解。"
 
为了找到促进肿瘤发生的基因变异,研究人员对39只诊断为胶质瘤的犬和141只对照犬的血液样本进行了全基因组关联性分析(GWAS)。经过筛选,共发现三个基因与胶质瘤发生的易感性存在高度关联,这三个基因分别是CAMKK2,P2RX7以及DENR。
 
其中两个基因与癌症的关联性还得到了进一步的证实。通过进一步的实验,研究人员发现相比于正常的脑组织,人类和犬的胶质瘤中CAMKK2的表达水平更低,而之前也有研究发现P2RX7基因发生的一种突变会降低蛋白的功能性,并且在癌症病人中还发现了该基因的其他突变形式。
 
研究人员表示对上述三个基因的进一步研究将加深人们对于犬和人类胶质瘤发生原因的理解,同时还有助于找到新的治疗方法。(生物谷Bioon.com)
 
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Utilizing the Dog Genome in the Search for Novel Candidate Genes Involved in Glioma Development-Genome Wide Association Mapping followed by Targeted Massive Parallel Sequencing Identifies a Strongly Associated Locus
 
Katarina Truvé  , Peter Dickinson, Anqi Xiong, Daniel York, Kartika Jayashankar, Gerli Pielberg, Michele Koltookian, Eva Murén, Hans-Henrik Fuxelius, Holger Weishaupt, Fredrik J. Swartling, G?ran Andersson, ?ke Hedhammar,  [ ... ], Kerstin Lindblad-Toh
 
Gliomas are the most common form of malignant primary brain tumors in humans and second most common in dogs, occurring with similar frequencies in both species. Dogs are valuable spontaneous models of human complex diseases including cancers and may provide insight into disease susceptibility and oncogenesis. Several brachycephalic breeds such as Boxer, Bulldog and Boston Terrier have an elevated risk of developing glioma, but others, including Pug and Pekingese, are not at higher risk. To identify glioma-associated genetic susceptibility factors, an across-breed genome-wide association study (GWAS) was performed on 39 dog glioma cases and 141 controls from 25 dog breeds, identifying a genome-wide significant locus on canine chromosome (CFA) 26 (p = 2.8 x 10?8). Targeted re-sequencing of the 3.4 Mb candidate region was performed, followed by genotyping of the 56 SNVs that best fit the association pattern between the re-sequenced cases and controls. We identified three candidate genes that were highly associated with glioma susceptibility: CAMKK2, P2RX7 andDENR. CAMKK2 showed reduced expression in both canine and human brain tumors, and a non-synonymous variant in P2RX7, previously demonstrated to have a 50% decrease in receptor function, was also associated with disease. Thus, one or more of these genes appear to affect glioma susceptibility.
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