Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer

• Published in: PLoS genetics Vol. 18; no. 2; p. e1010050
• Main Authors: Cheng, Xiaoqing, Zhang, Fenglan, Gong, Jingwen, Li, Yige, Zhou, Dan, Wang, Jing, Vong, Eu Gene, Yuan, Ying, Lai, Maode, Zhang, Dandan
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 02.02.2022; Public Library of Science (PLoS)
• Subjects: Annotations; Binding sites; Biology and Life Sciences; Cancer; Carcinogenesis; Chromosome 18; Chromosomes; Colorectal cancer; Colorectal carcinoma; Colorectal Neoplasms - genetics; Datasets; Development and progression; Disease; Epigenetics; Gene expression; Gene loci; Genetic aspects; Genetic Predisposition to Disease; Genome-wide association studies; Genome-Wide Association Study; Genomes; Health risk assessment; Humans; Linkage disequilibrium; Malignancy; Medicine and Health Sciences; mRNA; Oncology, Experimental; Polymorphism, Single Nucleotide; Risk factors; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Smad7 protein; Smooth muscle; Therapeutic targets; China

Genome-wide association studies (GWAS) have identified more than 160 susceptibility loci for colorectal cancer (CRC). The effects of these variants, particularly their mechanisms, however, remain unclear. In this study, a comprehensive functional annotation of CRC-related GWAS signals was firstly co...