title: Association between PTPN22 C1858T polymorphism and alopecia areata risk.
abstract: Alopecia areata (AA) is a skin condition in which hair is lost from certain or all areas of the body. This condition has been described as an immune-mediated complex genetic disease, characterized by the presence of lymphocytes that are directed to the hair follicles in the anagen phase. The gene encoding the protein tyrosine phosphatase, non-receptor type 22 (PTPN22), which is exclusively expressed in immune cells, has been considered as a risk factor associated with a number of autoimmune diseases. In AA, the single nucleotide polymorphism, rs2476601, has been identified as a risk factor in several populations. The aim of the present study was to investigate the effect of PTPN22 C1858T inherited genetic polymorphism on the predisposition to severe forms of AA, in a case-control study on individuals. The study included 64 unrelated patients diagnosed with several types of AA, as well as 225 healthy unrelated subjects. The DNA samples were genotyped for PTPN22 C1858T polymorphism using the polymerase chain reaction-restriction fragment length polymorphism technique. Causal associations were determined by χ2test and their respective odds ratio (OR) was assessed in a 2×2 contingency table. The results demonstrated a significant association of the T allele [P=0.040; OR=3.196; 95% confidence interval (CI), 0.094-10.279] and the CT genotype (P=0.038; OR=3.313; 95% CI, 1.008-10.892) with patchy AA. In conclusion, the results of the present study suggested the possible involvement of the T allele of the PTPN22 C1858T SNP as a genetic risk factor for this type of AA in the population studied.
authors.affiliation: Research Department, Faculty of Medicine, Autonomous University of Coahuila, Saltillo, Coahuila 25000, México ; Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, México.
authors.forename: Mauricio
authors.initials: M
authors.lastname: Salinas-Santander
authors.affiliation: Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, México.
authors.forename: Celia
authors.initials: C
authors.lastname: Sánchez-Domínguez
authors.affiliation: Department of Dermatology, University Hospital 'Dr José Eleuterio González', Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, México.
authors.forename: Cristina
authors.initials: C
authors.lastname: Cantú-Salinas
authors.affiliation: Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, México.
authors.forename: Hugo
authors.initials: H
authors.lastname: Gonzalez-Cárdenas
authors.affiliation: Research Department, Faculty of Medicine, Autonomous University of Coahuila, Saltillo, Coahuila 25000, México.
authors.forename: Ana Cecilia
authors.initials: AC
authors.lastname: Cepeda-Nieto
authors.affiliation: School of Nursing, Genomics and Sequencing Unit, Center for Research and Development in the Health Sciences, Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, México.
authors.forename: Ricardo M
authors.initials: RM
authors.lastname: Cerda-Flores
authors.affiliation: Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, México ; Department of Molecular Biology, Genomics and Sequencing Unit, Center for Research and Development in the Health Sciences, Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, México.
authors.forename: Rocío
authors.initials: R
authors.lastname: Ortiz-López
authors.affiliation: Department of Dermatology, University Hospital 'Dr José Eleuterio González', Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, México.
authors.forename: Jorge
authors.initials: J
authors.lastname: Ocampo-Candiani
keywords: PTPN22 C1858T; alopecia areata; autoimmune diseases; lymphoid protein tyrosine phosphatase; polymerase chain reaction-restriction fragment length polymorphism