C1858T Functional Variant of PTPN22 Gene Is Not Associated With Celiac Disease Genetic Predisposition

• Published in: Human Immunology Vol. 66; no. 7; pp. 848 - 852
• Main Authors: Rueda, Blanca, Núñez, Concepción, Orozco, Gisela, López-Nevot, M. Ángel, de la Concha, Emilio G., Martin, Javier, Urcelay, Elena
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.07.2005
• Subjects: Autoimmune Diseases - genetics; Case-Control Studies; celiac disease; Celiac Disease - genetics; Child; Child, Preschool; disequilibrium test; Female; Gene Frequency; Genetic Predisposition to Disease - genetics; Genotype; Heterozygote; Homozygote; Humans; Male; polymorphism; Polymorphism, Single Nucleotide - genetics; protein tyrosine phosphatase nonreceptor 22 ( PTPN22) gene; Protein Tyrosine Phosphatase, Non-Receptor Type 22; protein tyrosine phosphatases; Protein Tyrosine Phosphatases - genetics; Spain; transmission; Spain; celiac disease; polymorphism; transmission; disequilibrium test; protein tyrosine phosphatase nonreceptor 22 ( PTPN22) gene; protein tyrosine phosphatases
• ISSN: 0198-8859; 1879-1166; 1365-2567
• DOI: 10.1016/j.humimm.2005.04.008

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.