The PTPN13 Y2081D (T>G) (rs989902) polymorphism is associated with an increased risk of sporadic colorectal cancer.

The PTPN13 Y2081D (T>G) (rs989902) polymorphism is associated with an increased risk of sporadic colorectal cancer.

Colorectal Dis. 2017 May 15;:

Authors: Laczmanska I, Karpinski P, Gil J, Laczmanski L, Makowska I, Bebenek M, Ramsey D, Sasiadek MM

Abstract
Colorectal cancer (CRC) is one of the most common cancers worldwide and, although the majority of cases are sporadic, its development and progression depends on a range of factors: environmental, genetic and epigenetic. A variety of genetic pathways have been described as being crucial in CRC, including protein tyrosine phosphatases (PTPs). PTPN13 (alias FAP-1) is a non-receptor PTP and interacts with a number of important components of growth and apoptosis pathways. It is also involved in the inhibition of Fas-induced apoptosis.
MATERIALS AND METHODS: The Single Nucleotide Polymorphism (SNP) genotype at Y2081D (T>G) (rs989902) of PTPN13 exon 39 was determined in DNA extracted from blood samples from 174 sporadic colorectal cancer (CRC) patients and 176 healthy individuals. Also, a meta-analysis was performed based on 3 articles accessed via the PubMed and ResearchGate databases.
RESULTS: The risk of colorectal cancer was 2.087 times greater for patients with the GG genotype than for those with the TT genotype (p=0.0475). In the meta-analysis, a significantly increased risk of cancer associated with the G allele was observed in the squamous cell carcinoma of the head and neck (SCCHN) subgroup (TT vs GG+GT: OR=1.23, 95% Cl=[1.02, 1.47], p=0.0258); and a significantly decreased risk in the BC subgroup (TT vs GG+GT: OR=0.63, 95% Cl=[0.41, 0.96], p=0.0334), and in the CRC subgroup (GT+TT vs GG: OR=0.51, 95% Cl=[0.41, 0.95], p=0.0333).
CONCLUSION: PTPN13 rs989902 is significantly associated with the risk of CRC in the Polish population. Given that this report provides the first evidence of an association of PTPN13 rs989902 with the risk of CRC in a Caucasian population, further large scale studies are necessary to confirm this finding. This article is protected by copyright. All rights reserved.

PMID: 28504867 [PubMed - as supplied by publisher]

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