Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA.
Curr Opin Genet Dev. 2010 Jun;20(3):239-44. doi: 10.1016/j.gde.2010.02.001. Epub 2010 Mar 6.
Recent advances in human genome studies have opened new avenues for the identification of susceptibility genes for many complex genetic disorders, especially in the field of rare cancers such as glioma. To date, eight glioma susceptibility loci have been identified by candidate gene-association studies: PRKDC G6721T, XRCC1 W399R, PARP1 A762V, MGMT F84L, ERCC1 A8092C, ERCC2 Q751K, EGF +61 A/G, and IL13 R110G. Five loci have been identified by genome-wide association studies: TERT rs2736100, CCDC26 rs4295627, CDKN2A-CDKN2B rs4977756, PHLDB1 rs498872, and RTEL1 rs6010620. Using the Ingenuity Pathway Analysis tool, we investigated whether these 13 susceptibility genes are biologically related. Our data provide not only networks for understanding the biological properties of gliomagenesis but also useful pathway maps for future understanding of disease.
近年来，人类基因组研究的进展为许多复杂遗传疾病的易感基因的鉴定开辟了新途径，特别是在罕见癌症如神经胶质瘤领域。迄今为止，通过候选基因关联研究已经确定了 8 个神经胶质瘤易感基因位点：PRKDC G6721T、XRCC1 W399R、PARP1 A762V、MGMT F84L、ERCC1 A8092C、ERCC2 Q751K、EGF +61 A/G 和 IL13 R110G。通过全基因组关联研究已经确定了 5 个基因位点：TERT rs2736100、CCDC26 rs4295627、CDKN2A-CDKN2B rs4977756、PHLDB1 rs498872 和 RTEL1 rs6010620。使用Ingenuity Pathway Analysis 工具，我们研究了这 13 个易感基因是否在生物学上相关。我们的数据不仅提供了用于理解神经胶质瘤发生生物学特性的网络，还提供了用于未来理解疾病的有用途径图谱。
