Associação dos polimorfismos do tipo INDEL com o risco de câncer colorretal na população do Rio Grande do Norte

Abstract

Colorectal cancer (CRC) is a type of cancer that affects large intestine and rectum region, and this is the third most common cancer worldwide in men and the second in women. The genetic susceptibility to CRC comes from multiple genetic variants. Individually, these genetic variants have modest effect. However, theses variants, when combined, cause a wide range of risk. Among all mutations types found in the human genome, insertion-deletions (INDEL) are the second most common class, which has a potential impact on the expression, structure and protein function. However, there are a few studies about INDEL impact on CRC risk. Thus the aim of this study is to evaluate the association of 16 INDEL with CRC susceptibility in Rio Grande do Norte population. Furthermore, it was also evaluated the relative ancestry distribution between case and control groups. Polymorphism and marker used for ancestry distribution were genotyped using ABI PRISM 3130 and GeneMapper ID v 3.2. Statistical analysis was performed using the R v 3.1. Regarding the genetic ancestry, there was significant difference in the distribution of the African contribution between groups. Regarding the polymorphism association in CRC risk, it was observed that the D allele of IL4 and I allele of TYMS polymorphisms were associated with increased CRC risk. In this study, it was also evaluated the combined effect of IL4 and TYMS polymorphism in CRC risk, and it was observed that at least 3 allelic risks were necessary to confer CRC risk.