Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Videnska 1083, 14220 Prague 4, Czech Republic.
Mutagenesis. 2012 Mar;27(2):161-7. doi: 10.1093/mutage/ger057.
Colorectal cancer (CRC) is one of the most common cancers worldwide with a peak of incidence in industrialised countries. It is a complex disease related to environmental and genetic risk factors. Low-penetrance genetic variations contribute significantly to sporadic and familial form of CRC. Genome-wide association studies (GWAS) have uncovered numerous robust associations between common variants and CRC risk; only a few of those were protein altering non-synonymous polymorphisms. One of the hypotheses is that non-coding and intergenic variants may change the expression levels of one or several target genes and, thus, account for a fraction of phenotypic differences, including susceptibility to CRC. Such genetic variations have been detected as expression quantitative loci (eQTLs) that show linkage/association to a large number of genes and have been defined as "master regulators of transcription". In the present work, we overview the potentialities to use results from GWAS and eQTL studies in the identification as well as investigation of master regulators in CRC susceptibility.
结直肠癌（CRC）是全球最常见的癌症之一，在工业化国家发病率最高。它是一种与环境和遗传风险因素有关的复杂疾病。低外显率遗传变异对散发性和家族性 CRC 有重要贡献。全基因组关联研究（GWAS）已经发现了许多常见变异与 CRC 风险之间的稳健关联；其中只有少数是改变蛋白质的非同义多态性。一种假设是，非编码和基因间变异可能改变一个或几个靶基因的表达水平，从而导致表型差异的一部分，包括对 CRC 的易感性。这些遗传变异已被检测为表达数量性状位点（eQTLs），它们与大量基因存在连锁/关联，并被定义为“转录的主要调控因子”。在本工作中，我们综述了利用 GWAS 和 eQTL 研究的结果在 CRC 易感性中鉴定和研究主要调控因子的可能性。
