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1513A>C Polymorphism in the P2X₇ Receptor Gene in Patients with Papillary Thyroid Cancer: Correlation with Histological Variants and Clinical Parameters

Departments of Internal Medicine (A.D., N.C., A.P., S.T., A.S., F.M.) and Surgery (P.B.), University of Pisa, 56126 Pisa, Italy; and Department of Experimental and Diagnostic Medicine (S.F., F.D.V.), University of Ferrara, 44100 Ferrara, Italy

Address all correspondence and requests for reprints to: Fabio Monzani, M.D., Department of Internal Medicine, University of Pisa, via Roma 67, 56126 Pisa, Italy. E-mail: fmonzani{at}med.unipi.it.

Introduction: The modulation of the purinergic receptor P2X₇ may be implicated in human carcinogenesis. The 1513A>C and 489C>T polymorphisms of P2X₇R gene induce loss of function and gain of function, respectively.

Aim: The aim of the study was to assess the frequency of both 1513A>C and 489C>T polymorphisms in patients with papillary thyroid carcinoma (PTC) and to evaluate the possible association with clinical and histological features.

Patients and Methods: P2X₇R analysis was performed in lymphocytes from 121 PTC patients (100 women, 21 men; aged 43.4 ± 13.6 yr), 100 matched healthy subjects, and 80 patients with nodular goiter.

Results: The minor allele frequency for 1513A>C polymorphism in PTC patients with the classical variant was similar to controls (0.21 and 0.20, respectively), whereas it resulted in a significant increase in patients with the follicular variant (0.36; P = 0.01 vs. classical variant, and P = 0.005 vs. controls). In detail, 13.6% of patients with PTC follicular variant were homozygous for the 1513C allele, compared to 2.6% of patients with the classical variant and 2% of controls. Moreover, a positive relationship between 1513A>C polymorphism and either cancer diameter (Rho = 0.22; P = 0.02) or TNM stage (Rho = 0.38; P < 0.001) was found. No significant difference in the genotype frequency of 489C>T polymorphism between PTC patients and healthy controls was observed (0.42 and 0.47, respectively).

Conclusions: Our data show, for the first time, a strong association between 1513A>C polymorphism of P2X₇R gene and the follicular variant of PTC. Further studies are needed to confirm the possible role of this polymorphism as a novel clinical marker of PTC follicular variant and its usefulness in selecting patients with different clinical outcome.