title: The functional PTPN22 C1858T polymorphism confers risk for rheumatoid arthritis in patients from Central Mexico.
abstract: Rheumatoid arthritis (RA) is a complex genetic disease. Human leukocyte antigen (HLA) and non-HLA genes are reportedly associated with an increased risk of RA. The protein tyrosine phosphatase non-receptor 22 gene (PTPN22), which encodes the lymphoid tyrosine phosphatase (LYP) protein, is one of the best examples of a non-HLA gene associated with a risk for RA in several populations. The functional PTPN22 C1858T (R620W) non-synonymous polymorphism is widely associated with an increased risk for RA in Europeans and non-Europeans. The aim of this study was to determine if the PTPN22 C1858T polymorphism confers susceptibility to RA in a sample of patients from Mexico. This study included 364 RA patients and 387 non-related controls from Central Mexico. Genotyping of the PTPN22 C1858T (rs2476601) polymorphism was performed using allelic discrimination assays with TaqMan probes. The functional PTPN22 C1858T polymorphism was associated with an increased risk for RA in our study population. The CC vs CT genotype in RA patients versus healthy controls had an odds ratio (OR) of 4.17 (95 % CI 1.79-9.74, p = 0.00036), while T allele had an OR of 4.06 (95 % CI 1.75-9.41, p = 0.00043). PTPN22 is a genetic risk factor for developing RA in the Mexican population.
authors.affiliation: Laboratorio de Oncología Molecular, Unidad de Diferenciación Celular y Cáncer, FES-Zaragoza, UNAM, Mexico City, Mexico.
authors.forename: J F Mendoza
authors.initials: JF
authors.lastname: Rincón
authors.affiliation: Laboratory of Genomic Medicine, Research Unit, Hospital Juárez de México, Av. Instituto Politécnico Nacional No. 5160, Delegación Gustavo A. Madero, C.P. 07760, Mexico City, Mexico.|Licenciatura en QFBT, Universidad del Valle de México-Chapultepec, Mexico City, Mexico.
authors.forename: D López
authors.initials: DL
authors.lastname: Cano
authors.affiliation: Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
authors.forename: S Jiménez
authors.initials: SJ
authors.lastname: Morales
authors.affiliation: Servicio de Reumatología, Hospital Regional Lic. Adolfo López Mateos, Mexico City, Mexico.
authors.forename: M L Rivas
authors.initials: ML
authors.lastname: Jiménez
authors.affiliation: Servicio de Reumatología, Hospital Juárez de México, Mexico City, Mexico.
authors.forename: R E Barbosa
authors.initials: RE
authors.lastname: Cobos
authors.affiliation: Laboratory of Genomic Medicine, Research Unit, Hospital Juárez de México, Av. Instituto Politécnico Nacional No. 5160, Delegación Gustavo A. Madero, C.P. 07760, Mexico City, Mexico. dr.julian.ramirez.hjm@gmail.com.
authors.forename: J Ramírez
authors.initials: JR
authors.lastname: Bello
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000453:epidemiology* / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008800:Mexico; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D012307:Risk Factors
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22
keywords: PTPN22; Rheumatoid arthritis; Single nucleotide polymorphism; Susceptibility