TP53 codon 72 Arg/Arg polymorphism is associated with a higher risk for inflammatory bowel disease development.

ABSTRACT:

Aim

To investigate the association between tumor protein 53 (TP53) codon 72 polymorphisms and the risk for inflammatory bowel disease (IBD) development.

Methods

Numerous genetic and epigenetic drivers have been identified for IBD including the TP53 gene. Pathogenic mutations in TP53 gene have only been reported in 50% of colorectal cancer (CRC) patients. A single nucleotide polymorphism (SNP) in the TP53 gene resulting in the presence of either arginine (Arg) or proline (Pro) or both at codon 72 was shown to alter TP53 tumor-suppressor properties. This SNP has been investigated as a risk factor for numerous cancers, including CRC. In this study we analyzed TP53 codon 72 polymorphism distribution in 461 IBD, 181 primary sclerosing cholangitis patients and 62 healthy controls.

SUBMITTER: Volodko N 

PROVIDER: S-EPMC4579882 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature