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Inflammation Research

, Volume 68, Issue 3, pp 195–201 | Cite as

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

  • María Elena Soto
  • Isela Montufar-Robles
  • Silvia Jiménez-Morales
  • Ricardo Gamboa
  • Claudia Huesca-Gómez
  • Julian Ramírez-BelloEmail author
Original Research Paper
  • 62 Downloads

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.

Keywords

PTPN22 Single nucleotide polymorphism R620W Susceptibility Takayasu’s arteritis 

Notes

Funding

There is no financial support for this work.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no competing interest.

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Copyright information

© Springer Nature Switzerland AG 2018

Authors and Affiliations

  1. 1.Departamento de InmunologíaInstituto Nacional de Cardiología “Ignacio Chávez”Mexico CityMexico
  2. 2.Unidad de Investigación en Enfermedades Metabólicas y EndócrinasHospital Juárez de MéxicoMexico CityMexico
  3. 3.Laboratorio de Genómica del CáncerInstituto Nacional de Medicina GenómicaMexico CityMexico
  4. 4.Departamento de FisiologíaInstituto Nacional de Cardiología “Ignacio Chávez”Mexico CityMexico

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