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RESEARCH PRODUCT
Role of PTPRJ genotype in papillary thyroid carcinoma risk
Alessandra CianfloneCarlo M. CroceHansjuerg AlderRodolfo IulianoAlbert De La ChapelleEleonora BorboneFrancesco TrapassoHuiling HeCarla GiordanoGeorge A. CalinRebecca NagyDario PalmieriPierlorenzo PallanteAlfredo FuscoAngela Iervolinosubject
RiskOncologyCancer Researchmedicine.medical_specialtyGenotypeendocrine system diseasesEndocrinology Diabetes and MetabolismBiologyPolymerase Chain ReactionArticleSettore MED/13 - EndocrinologiaThyroid carcinomaEndocrinologyGene FrequencyInternal medicineGenotypeOdds RatiomedicineGenetic predispositionHumansGenetic Predisposition to DiseaseThyroid NeoplasmsAlleleAllele frequencyAllelesGenetic Association StudiesPapillay thyroid carcinomaGeneticsChi-Square DistributionPolymorphism GeneticReceptor-Like Protein Tyrosine Phosphatases Class 3ThyroidCase-control studyCarcinoma PapillaryGenotype frequencymedicine.anatomical_structureOncologyCase-Control Studiesdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2010-01-01 |