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An association study in PTPN22 suggests that is a risk factor to Takayasu’s arteritis

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Abstract

Objectives

Takayasu’s arteritis (TA) represents a rare autoimmune disease (AD) characterized by systemic vasculitis that primarily affects large arteries, especially the aorta and the aortic arch and its main branches. Genetic components in TA are largely unknown. PTPN22 is a susceptibility loci for different ADs; however, the role of different PTPN22 single-nucleotide polymorphisms (SNPs) in the susceptibility to TA is not clear. Methods: We evaluated the PTPN22 R620W (C1858T), R263Q (G788A), and − 123G/C SNPs in a group of patients with TA and in healthy individuals from Mexico. Our study included 111 patients with TA and 314 healthy individuals. Genotyping was performed with the 5′ exonuclease (TaqMan®) assay.

Results

Our data showed that the PTPN22 R620W polymorphism is a risk factor for TA (CC vs. CT: OR 4.3, p = 0.002, and C vs. T: OR 4.1, p = 0.003); however, the PTPN22 R263Q and − 1123G/C polymorphisms are not associated with this AD. In addition, the PTPN22 CGT haplotype, which carries the minor allele of the PTPN22 C1858T variant, was also associated with TA susceptibility.

Conclusion

This is the first report documenting an association between PTPN22 R620W and TA.

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Authors and Affiliations

  1. Departamento de Inmunología, Instituto Nacional de Cardiología “Ignacio Chávez”, Mexico City, Mexico

    María Elena Soto

  2. Unidad de Investigación en Enfermedades Metabólicas y Endócrinas, Hospital Juárez de México, Av. Instituto Politécnico Nacional No. 5160, Delegación Gustavo A. Madero, C.P. 07760, Mexico City, DF, Mexico

    Isela Montufar-Robles & Julian Ramírez-Bello

  3. Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Mexico City, Mexico

    Silvia Jiménez-Morales

  4. Departamento de Fisiología, Instituto Nacional de Cardiología “Ignacio Chávez”, Mexico City, Mexico

    Ricardo Gamboa & Claudia Huesca-Gómez

Authors
  1. María Elena Soto
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  2. Isela Montufar-Robles
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  3. Silvia Jiménez-Morales
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Correspondence to Julian Ramírez-Bello.

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Soto, M.E., Montufar-Robles, I., Jiménez-Morales, S. et al. An association study in PTPN22 suggests that is a risk factor to Takayasu’s arteritis. Inflamm. Res. 68, 195–201 (2019). https://doi.org/10.1007/s00011-018-1204-1

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  • DOI: https://doi.org/10.1007/s00011-018-1204-1

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