SLC22A3 polymorphisms do not modify pancreatic cancer risk, but may influence overall patient survival

Title: SLC22A3 polymorphisms do not modify pancreatic cancer risk, but may influence overall patient survival
Authors: Mohelnikova-Duchonova, Beatrice
Strouhal, Ondrej
Hughes, David J.
et al.
Permanent link: http://hdl.handle.net/10197/10280
Date: 8-Mar-2017
Online since: 2019-05-02T10:54:52Z
Abstract: Expression of the solute carrier (SLC) transporter SLC22A3 gene is associated with overall survival of pancreatic cancer patients. This study tested whether genetic variability in SLC22A3 associates with pancreatic cancer risk and prognosis. Twenty four single nucleotide polymorphisms (SNPs) tagging the SLC22A3 gene sequence and regulatory elements were selected for analysis. Of these, 22 were successfully evaluated in the discovery phase while six significant or suggestive variants entered the validation phase, comprising a total study number of 1,518 cases and 3,908 controls. In the discovery phase, rs2504938, rs9364554, and rs2457571 SNPs were significantly associated with pancreatic cancer risk. Moreover, rs7758229 associated with the presence of distant metastases, while rs512077 and rs2504956 correlated with overall survival of patients. Although replicated, the association for rs9364554 did not pass multiple testing corrections in the validation phase. Contrary to the discovery stage, rs2504938 associated with survival in the validation cohort, which was more pronounced in stage IV patients. In conclusion, common variation in the SLC22A3 gene is unlikely to significantly contribute to pancreatic cancer risk. The rs2504938 SNP in SLC22A3 significantly associates with an unfavorable prognosis of pancreatic cancer patients. Further investigation of this SNP effect on the molecular and clinical phenotype is warranted.
Type of material: Journal Article
Publisher: Springer Nature
Journal: Scientific Reports
Volume: 7
Issue: Article 43812
Copyright (published version): 2017 the Authors
Keywords: Pancreatic ductal carcinomaPancreatic neoplasmsOrganic cation transport proteinsSingle nucleotide polymorphismGenetic enhancer elementsKaplan-Meier estimate
DOI: 10.1038/srep43812
Language: en
Status of Item: Peer reviewed
Appears in Collections:Biomolecular and Biomedical Science Research Collection

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