In:
The Journal of Clinical Endocrinology & Metabolism, The Endocrine Society, Vol. 94, No. 2 ( 2009-02-01), p. 695-698
Kurzfassung:
Introduction: The modulation of the purinergic receptor P2X7 may be implicated in human carcinogenesis. The 1513A & gt;C and 489C & gt;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 & gt;C and 489C & gt;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 & gt;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 & gt;C polymorphism and either cancer diameter (Rho = 0.22; P = 0.02) or TNM stage (Rho = 0.38; P & lt; 0.001) was found. No significant difference in the genotype frequency of 489C & gt;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 & gt;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.
Materialart:
Online-Ressource
ISSN:
0021-972X
,
1945-7197
DOI:
10.1210/jc.2008-1322
Sprache:
Englisch
Verlag:
The Endocrine Society
Publikationsdatum:
2009
ZDB Id:
2026217-6
