title: PTPN22 C1858T polymorphism and human brucellosis.
abstract: The PTPN22 gene encodes for an intracellular lymphoid-specific phosphatase (Lyp) that has a negative regulatory effect on T-cell activation. The minor allele of the single nucleotide polymorphism (SNP) in the PTPN22 gene encoding the Lyp-tyrosine phosphatase has been associated with multiple autoimmune disorders and with susceptibility to M. tuberculosis. It is possible, therefore, that variants of this gene may also be involved in susceptibility to another intracellular pathogen, B. melitensis, which gives rise to human brucellosis. Accordingly, we studied 111 patients with brucellosis and 150 healthy controls who had had no prior contact with the pathogen. Genotyping of the PTPN22 1858CT was performed by an allele discrimination assay with TaqMan 5'. We found no statistically significant differences between the patients and the controls in genotype or allele frequencies of PTPN22 1858CT. These data suggest that this variant is not associated with human brucellosis.
authors.affiliation: Immunology Service, Carlos Haya Regional University Hospital, Avda. Carlos Haya 82, 29010 Malaga, Spain. mariajose.bravo@fundacionimabis.org
authors.forename: Maria Jose
authors.initials: MJ
authors.lastname: Bravo
authors.forename: Juan Dios
authors.initials: JD
authors.lastname: Colmenero
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Queipo-Ortuño
authors.forename: Pilar
authors.initials: P
authors.lastname: Morata
authors.forename: Gisela
authors.initials: G
authors.lastname: Orozco
authors.forename: Javier
authors.initials: J
authors.lastname: Martin
authors.forename: Antonio
authors.initials: A
authors.lastname: Alonso
authors.forename: Abelardo
authors.initials: A
authors.lastname: Caballero
mesh_terms: D002006:Brucellosis / Q000235:genetics*; D016009:Chi-Square Distribution; D003627:Data Interpretation, Statistical; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22