title: No association of the exonuclease 1 T439M polymorphism and risk of hepatocellular carcinoma development in the Turkish population: a case-control study.
abstract: Exonuclease 1 (Exo 1) is an important nuclease involved in the mismatch repair system that contributes to maintaining genomic stability, modulating DNA recombination and mediating cell cycle arrest. A cytosine (C)/thymine (T) common single nucleotide polymorphism (SNP) at second position of codon 439 in exon 10 of Exo 1 determines a threonine (Thr, T) to methionine (Met, M) (T439M) aminoacidic substitution which may alter cancer risk by influencing the activity of Exo 1 protein. The association of Exo 1 T439M polymorphism with hepatocellular carcinoma (HCC) susceptibility has yet to be investigated. To assess this possibility in a Turkish population, a hospital-based case-control study was designed consisting of 224 subjects with HCC and 224 cancer-free control subjects matched for age, gender, smoking and alcohol status. The genotype frequency of the Exo 1 T439M polymorphism was determined by using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. No statistically significant differences were found in the allele or genotype distributions of the Exo 1 T439M polymorphism among HCC and cancer-free control subjects (P>0.05). Our result demonstrates for the first time that the Exo 1 T439M polymorphism does not have a major role in genetic susceptibility to hepatocarcinogenesis, at least in the population studied here. Independent studies are need to validate our findings in a larger series, as well as in patients of different ethnic origins.
authors.affiliation: Department of Nursing, Adiyaman School of Health, Adiyaman University, Adiyaman, Turkey. slymnbyrm81@gmail.com
authors.forename: Süleyman
authors.initials: S
authors.lastname: Bayram
authors.forename: Hikmet
authors.initials: H
authors.lastname: Akkiz
authors.forename: Aynur
authors.initials: A
authors.lastname: Bekar
authors.forename: Ersin
authors.initials: E
authors.lastname: Akgöllü
authors.forename: Selçuk
authors.initials: S
authors.lastname: Yıldırım
mesh_terms: D000483:Alleles; D006528:Carcinoma, Hepatocellular / Q000097:blood / Q000201:enzymology* / Q000235:genetics*; D016022:Case-Control Studies; D005090:Exodeoxyribonucleases / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008113:Liver Neoplasms / Q000097:blood / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D014421:Turkey
chemical_list: D005090:Exodeoxyribonucleases; C028450:exodeoxyribonuclease I