Genetic Variants Associated with Colorectal Adenoma Susceptibility

• Published in: PloS one Vol. 11; no. 4; p. e0153084
• Main Authors: Abulí, Anna, Castells, Antoni, Bujanda, Luis, Lozano, Juan José, Bessa, Xavier, Hernández, Cristina, Álvarez-Urturi, Cristina, Pellisé, Maria, Esteban-Jurado, Clara, Hijona, Elizabeth, Burón, Andrea, Macià, Francesc, Grau, Jaume, Guayta, Rafael, Castellví-Bel, Sergi, Andreu, Montserrat
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 14.04.2016; Public Library of Science (PLoS)
• Subjects: Adenoma; Adenoma - genetics; Aged; Alleles; Analysis; Biology and Life Sciences; Cancer; Cancer screening; Case studies; Case-Control Studies; Chromosomes; Colon; Colonoscopy; Colonoscòpia; Colorectal cancer; Colorectal carcinoma; Colorectal Neoplasms - genetics; Càncer colorectal; Disease susceptibility; Epidemiology; Estudi de casos; Female; Gastroenterology; Gene Frequency; Genetic aspects; Genetic diversity; Genetic Predisposition to Disease - genetics; Genetic variance; Genetic variation; Genome-Wide Association Study; Genomes; Genotype; Genètica humana; Health risks; Hospitals; Human genetics; Humans; Lesions; Logistic Models; Male; Medical research; Medicine and Health Sciences; Middle Aged; Mortality; Multivariate Analysis; Mutació (Biologia); Mutation (Biology); Patients; Physiological aspects; Polymorphism, Single Nucleotide; Research and Analysis Methods; Risk; Risk Assessment - methods; Risk Assessment - statistics & numerical data; Risk Factors; Screening; Statistical analysis; Studies; Tumors; Spain
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0153084

Common low-penetrance genetic variants have been consistently associated with colorectal cancer risk. To determine if these genetic variants are associated also with adenoma susceptibility and may improve selection of patients with increased risk for advanced adenomas and/or multiplicity (≥ 3 adenomas). We selected 1,326 patients with increased risk for advanced adenomas and/or multiplicity and 1,252 controls with normal colonoscopy from population-based colorectal cancer screening programs. We conducted a case-control association study analyzing 30 colorectal cancer susceptibility variants in order to investigate the contribution of these variants to the development of subsequent advanced neoplasia and/or multiplicity. We found that 14 of the analyzed genetic variants showed a statistically significant association with advanced adenomas and/or multiplicity: the probability of developing these lesions increased with the number of risk alleles reaching a 2.3-fold risk increment in individuals with ≥ 17 risk alleles. Nearly half of the genetic variants associated with colorectal cancer risk are also related to advanced adenoma and/or multiplicity predisposition. Assessing the number of risk alleles in individuals within colorectal cancer screening programs may help to identify better a subgroup with increased risk for advanced neoplasia and/or multiplicity in the general population.