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. 2016 Apr 14;11(4):e0153084.
doi: 10.1371/journal.pone.0153084. eCollection 2016.

Genetic Variants Associated with Colorectal Adenoma Susceptibility

Anna Abulí  1 , Antoni Castells  2 , Luis Bujanda  3 , Juan José Lozano  4 , Xavier Bessa  1 , Cristina Hernández  5 , Cristina Álvarez-Urturi  1 , Maria Pellisé  2 , Clara Esteban-Jurado  2 , Elizabeth Hijona  3 , Andrea Burón  5 , Francesc Macià  5 , Jaume Grau  6 , Rafael Guayta  7 , Sergi Castellví-Bel  2 , Montserrat Andreu  1 ; PROCOLON research group
Collaborators, Affiliations

Genetic Variants Associated with Colorectal Adenoma Susceptibility

Anna Abulí et al. PLoS One. .

Abstract

Background: Common low-penetrance genetic variants have been consistently associated with colorectal cancer risk.

Aim: 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).

Methods: 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.

Results: 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.

Conclusions: 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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Cumulative impact of the 14 selected variants on adenoma risk.
Distribution of risk alleles for cases (black bars) and controls (grey bars). Upper panel and table: Plot of the ORs for cases with increasing number of risk alleles. ORs are relative to the median number of risk alleles in controls (13 risk alleles as reference group). Vertical bars correspond to 95% CI. Statistical significance is shown in the table for the different groups of multiple risk alleles.
Fig 2
Fig 2. Distributions of predicted risks in cases and controls.
The median of risk score was 0.60 (95% CI 0.59–0.61) for cases and 0.43 (95% CI 0.42–0.45) for controls. Risk score was significantly higher in advanced adenomas and/or multiplicity.
See this image and copyright information in PMC

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