Role of PTPRJ genotype in papillary thyroid carcinoma risk.
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.
Iuliano
Rodolfo
R
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
Palmieri
Dario
D
He
Huiling
H
Iervolino
Angela
A
Borbone
Eleonora
E
Pallante
Pierlorenzo
P
Cianflone
Alessandra
A
Nagy
Rebecca
R
Alder
Hansjuerg
H
Calin
George A
GA
Trapasso
Francesco
F
Giordano
Carla
C
Croce
Carlo M
CM
de la Chapelle
Albert
A
Fusco
Alfredo
A
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*
C486288:PTPRJ protein, human; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3
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