Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, United Kingdom.
Department of Medicine, Dan L. Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, Texas.
Cancer Epidemiol Biomarkers Prev. 2018 Apr;27(4):418-428. doi: 10.1158/1055-9965.EPI-17-1080. Epub 2018 Jan 30.
Since the first reports in 2009, genome-wide association studies (GWAS) have been successful in identifying germline variants associated with glioma susceptibility. In this review, we describe a chronological history of glioma GWAS, culminating in the most recent study comprising 12,496 cases and 18,190 controls. We additionally summarize associations at the 27 glioma-risk SNPs that have been reported so far. Future efforts are likely to be principally focused on assessing association of germline-risk SNPs with particular molecular subgroups of glioma, as well as investigating the functional basis of the risk loci in tumor formation. These ongoing studies will be important to maximize the impact of research into glioma susceptibility, both in terms of insight into tumor etiology as well as opportunities for clinical translation.
自 2009 年首次报道以来,全基因组关联研究(GWAS)已成功鉴定出与胶质瘤易感性相关的种系变异。在这篇综述中,我们描述了胶质瘤 GWAS 的时间顺序历史,最终是最近的一项研究,包括 12496 例病例和 18190 例对照。我们还总结了迄今为止报道的 27 个胶质瘤风险 SNP 的关联。未来的研究可能主要集中在评估种系风险 SNP 与胶质瘤特定分子亚群的关联,以及研究肿瘤形成中风险位点的功能基础。这些正在进行的研究对于最大限度地提高胶质瘤易感性研究的影响非常重要,无论是在肿瘤病因学方面的深入了解,还是在临床转化方面的机会。