Association between PTPN22 C1858T polymorphism and alopecia areata risk

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MAURICIO SALINAS‑SANTANDER1,2, CELIA SÁNCHEZ‑DOMÍNGUEZ2, CRISTINA CANTÚ‑SALINAS3, HUGO GONZALEZ‑CÁRDENAS2, ANA CECILIA CEPEDA‑NIETO1, RICARDO M. CERDA‑FLORES4, ROCÍO ORTIZ‑LÓPEZ2,5 and JORGE OCAMPO‑CANDIANI*3

1 Research Department, Faculty of Medicine, Autonomous University of Coahuila, Saltillo, Coahuila 25000;
2 Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Autonomous University of Nuevo León;
3 Department of Dermatology, University Hospital ‘Dr José Eleuterio González’, Autonomous University of Nuevo León;
4 School of Nursing;
5 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

*jocampo2000@yahoo.com.mx

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
χ2 test 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.

1 Exp Ther Med Vol10 No5 Pg1953 PTPN22 y alopecia

 


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