Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy

Escamilla‑Tilch,Mónica; Pérez‑Suárez,Thalía   Gabriela; Torres‑Carrillo,Nora   Magdalena; Rodríguez‑Guillén,Rosario; Arenas‑Guzmán,Roberto; Torres‑Hernández,Marcela; Fafutis‑Morris,Mary; Estrada‑Parra,Sergio; Estrada‑García,Iris; García‑Lechuga,Maricela; Granados,Julio; Ramos‑Payan,Rosalio

doi:10.3892/br.2019.1184

Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy

Authors:
- Mónica Escamilla‑Tilch
- Thalía Gabriela Pérez‑Suárez
- Nora Magdalena Torres‑Carrillo
- Rosario Rodríguez‑Guillén
- Roberto Arenas‑Guzmán
- Marcela Torres‑Hernández
- Mary Fafutis‑Morris
- Sergio Estrada‑Parra
- Iris Estrada‑García
- Maricela García‑Lechuga
- Julio Granados
- Rosalio Ramos‑Payan
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Affiliations: Coordinación de Investigación, Centro Médico Nacional ‘20 de Noviembre’, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Mexico City 03100, México, Departamento de Microbiología y Patología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México, Unidad de Biología Molecular y Medicina Genómica, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 14000, México, Sección de Micología, Hospital General Dr. Manuel Gea González, México City 14080, México, Hospital Regional de Psiquiatría, Héctor H. Tovar Acosta, Instituto Mexicano del Seguro Social, Mexico City 14070, México , Centro de Investigación en Inmunología y Dermatología, Instituto Dermatológico de Jalisco, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México, Departamento de Inmunología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Mexico City 11340, México, Departamento de Trasplantes, División de Inmunogenética, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 14000, México, Laboratory of Immunology, Faculty of Biological and Chemical Sciences, Autonomous University of Sinaloa, Culiacán, Sinaloa 80010, México
Published online on: January 7, 2019 https://doi.org/10.3892/br.2019.1184
Pages: 127-132

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Abstract

Leprosy, a human chronic granulomatous disease caused by Mycobacterium leprae (M. leprae), remains endemic in certain countries despite the use of multidrug therapy. Recently, several host genes modulating the immune responses to M. leprae infection have been suggested to influence the acquisition and clinical course of leprosy. Lymphoid protein tyrosine phosphatase, encoded by the protein tyrosine phosphatase non‑receptor type 22 (PTPN22) gene, serves a negative regulatory role in T cell activation. The non‑synonymous single‑nucleotide polymorphism (SNP) rs2476601 (1858C>T) has been associated with autoimmune diseases. Here, the present study investigated if rs2476601 polymorphism was associated with leprosy in a Mexican mestizo population. Genotyping was performed in patients with leprosy (n=189) and control subjects (n=231) from regions with higher incidence of leprosy. Genotypic (P=0.44) and allelic frequencies (P=0.45) of the rs2476601 polymorphism were similar between patients and controls; genotypic frequencies were 91 vs. 94% for CC and 9 vs. 6% for CT, and the TT genotype was absent in both groups. Allelic frequencies were 96 vs. 97% for C, and 4 vs. 3% for T. In the same way, the genotypic (P=0.46) and allelic frequencies (P=0.47) from MB patients and controls were similar. In conclusion, there was a lack of association of the PTPN22 rs2476601 polymorphism with the development of leprosy, which suggests that this SNP was not a genetic risk factor for leprosy in the Mexican mestizo population studied.

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