Celiac Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Celiac Disease, including details on symptoms, diagnosis, causes, diet.

C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition.

Rueda B, Núñez C, Orozco G, López-Nevot MA, de la Concha EG, Martin J, Urcelay E

Instituto de Parasitología y Biomedicina López Neyra, Armilla, Granada, Spain.

Recent findings have demonstrated that the single nucleotide polymorphism 1858C-->T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene has functional relevance and is associated with a variety of autoimmune diseases. The aim of this study was to assess the role of the PTPN22 1858C-->T polymorphism in the genetic predisposition to celiac disease (CD). We analyzed a case-control cohort composed by 534 patients with CD and 653 healthy controls and additionally a panel of 271 celiac families. The PTPN22 1858C-->T genotyping was performed by TaqMan 5' allelic discrimination assay. We did not observed any statistically significant deviation after comparing allele and genotypic frequencies of PTPN22 1858C-->T between patients with CD and controls. Accordingly, the familial analysis did not reach statistically significant deviation in the transmission of PTPN22 1858C-->T alleles to the affected offspring. Therefore, our data suggest that the PTPN22 1858 single nucleotide polymorphism has no, or only a negligible, effect on CD susceptibility in this Spanish population.

Published 22 August 2005 in Hum Immunol, 66(7): 848-52.
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