title: Role of PTPRJ genotype in papillary thyroid carcinoma risk.
abstract: The strong genetic predisposition to papillary thyroid carcinoma (PTC) might be due to a combination of low-penetrance susceptibility variants. Thus, the research into gene variants involved in the increase of susceptibility to PTC is a relevant field of investigation. The gene coding for the receptor-type tyrosine phosphatase PTPRJ has been proposed as a cancer susceptibility gene, and its role as a tumor suppressor gene is well established in thyroid carcinogenesis. In this study, we want to ascertain the role of PTPRJ genotype in the risk for PTC. We performed a case-control study in which we determined the PTPRJ genotype for the non-synonymous Gln276Pro and Asp872Glu polymorphisms by PCR amplification and sequencing. We calculated allele and genotype frequencies for the considered polymorphisms of PTPRJ in a total sample of 299 cases (PTC patients) and 339 controls (healthy subjects) selected from Caucasian populations. We observed a significantly higher frequency of homozygotes for the Asp872 allele in the group of PTC patients than in the control group (odds ratio=1.61, 95% confidence interval 1.15-2.25, P=0.0053). We observed a non-significant increased frequency of homozygotes for Gln276Pro polymorphism in PTC cases in two distinct Caucasian populations. Therefore, the results reported here show that the homozygous genotype for Asp872 of PTPRJ is associated with an increased risk to develop PTC.
authors.affiliation: Dipartimento di Medicina Sperimentale e Clinica, Facoltà di Medicina e Chirurgia, Università degli Studi Magna Græcia di Catanzaro, Campus Salvatore Venuta, Viale Europa, località Germaneto, Catanzaro, Italy. iuliano@unicz.it
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Iuliano
authors.forename: Dario
authors.initials: D
authors.lastname: Palmieri
authors.forename: Huiling
authors.initials: H
authors.lastname: He
authors.forename: Angela
authors.initials: A
authors.lastname: Iervolino
authors.forename: Eleonora
authors.initials: E
authors.lastname: Borbone
authors.forename: Pierlorenzo
authors.initials: P
authors.lastname: Pallante
authors.forename: Alessandra
authors.initials: A
authors.lastname: Cianflone
authors.forename: Rebecca
authors.initials: R
authors.lastname: Nagy
authors.forename: Hansjuerg
authors.initials: H
authors.lastname: Alder
authors.forename: George A
authors.initials: GA
authors.lastname: Calin
authors.forename: Francesco
authors.initials: F
authors.lastname: Trapasso
authors.forename: Carla
authors.initials: C
authors.lastname: Giordano
authors.forename: Carlo M
authors.initials: CM
authors.lastname: Croce
authors.forename: Albert
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: Alfredo
authors.initials: A
authors.lastname: Fusco
mesh_terms: D000483:Alleles; D002291:Carcinoma, Papillary / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3 / Q000235:genetics; D012306:Risk; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: C486288:PTPRJ protein, human; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3
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