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

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

Research output: Contribution to journalArticleResearchpeer-review

Abstract

© 2019, Spandidos Publications. All rights reserved. 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.
Original languageAmerican English
Pages (from-to)127-132
Number of pages113
JournalBiomedical Reports
DOIs
StatePublished - 1 Jan 2019

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Non-Receptor Type 22 Protein Tyrosine Phosphatase
Leprosy
Polymorphism
Mycobacterium leprae
Nucleotides
Genes
Single Nucleotide Polymorphism
Protein Tyrosine Phosphatases
T-cells
Chronic Granulomatous Disease
Mycobacterium Infections
Chemical activation
Association reactions
Population
Autoimmune Diseases
Publications
Genotype
T-Lymphocytes

Cite this

Escamilla-Tilch, M., Pérez-Suárez, T. G., Torres-Carrillo, N. M., Rodríguez-Guillén, R., Arenas-Guzmán, R., Torres-Hernández, M., ... Ramos-Payan, R. (2019). Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy. Biomedical Reports, 127-132. https://doi.org/10.3892/br.2019.1184
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. / Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy. In: Biomedical Reports. 2019 ; pp. 127-132.
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title = "Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy",
abstract = "{\circledC} 2019, Spandidos Publications. All rights reserved. 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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Escamilla-Tilch, M, Pérez-Suárez, TG, Torres-Carrillo, NM, Rodríguez-Guillén, R, Arenas-Guzmán, R, Torres-Hernández, M, Fafutis-Morris, M, Estrada-Parra, S, Estrada-García, I, García-Lechuga, M, Granados, J & Ramos-Payan, R 2019, 'Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy' Biomedical Reports, pp. 127-132. https://doi.org/10.3892/br.2019.1184

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.

In: Biomedical Reports, 01.01.2019, p. 127-132.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy

AU - Escamilla-Tilch, Mónica

AU - Pérez-Suárez, Thalía Gabriela

AU - Torres-Carrillo, Nora Magdalena

AU - Rodríguez-Guillén, Rosario

AU - Arenas-Guzmán, Roberto

AU - Torres-Hernández, Marcela

AU - Fafutis-Morris, Mary

AU - Estrada-Parra, Sergio

AU - Estrada-García, Iris

AU - García-Lechuga, Maricela

AU - Granados, Julio

AU - Ramos-Payan, Rosalio

PY - 2019/1/1

Y1 - 2019/1/1

N2 - © 2019, Spandidos Publications. All rights reserved. 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.

AB - © 2019, Spandidos Publications. All rights reserved. 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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Escamilla-Tilch M, Pérez-Suárez TG, Torres-Carrillo NM, Rodríguez-Guillén R, Arenas-Guzmán R, Torres-Hernández M et al. Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy. Biomedical Reports. 2019 Jan 1;127-132. https://doi.org/10.3892/br.2019.1184