title: C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition.
abstract: 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.
authors.affiliation: Instituto de Parasitología y Biomedicina López Neyra, Armilla, Granada, Spain.
authors.forename: Blanca
authors.initials: B
authors.lastname: Rueda
authors.forename: Concepción
authors.initials: C
authors.lastname: Núñez
authors.forename: Gisela
authors.initials: G
authors.lastname: Orozco
authors.forename: M Angel
authors.initials: MA
authors.lastname: López-Nevot
authors.forename: Emilio G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: Javier
authors.initials: J
authors.lastname: Martin
authors.forename: Elena
authors.initials: E
authors.lastname: Urcelay
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics; D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D013030:Spain
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases