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PTPN22 +788 G>A (R263Q) Polymorphism is Associated with mRNA Expression but it is not a Susceptibility Marker for Rheumatoid Arthritis Patients from Western Mexico

  • S. Ramírez-Pérez
  • G. A. Sánchez-Zuno
  • L. E. Chavarría-Buenrostro
  • M. Montoya-Buelna
  • I. V. Reyes-Pérez
  • M. G. Ramírez-Dueñas
  • C. A. Palafox-Sánchez
  • G. E. Martínez-Bonilla
  • J. F. Muñoz-Valle
Original Article
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Abstract

PTPN22 represents an important non-HLA gene that has been strongly associated with rheumatoid arthritis (RA) pathogenesis. Several studies have reported a specific genetic variant for PTPN22 (+788 G>A; rs33996649) that might be associated with decreased RA risk in Caucasian population; nevertheless, its specific role in western Mexican population has not been yet described. A case–control study with 443 RA patients and 317 control subjects (CS) was conducted. The genotyping was performed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique and the PTPN22 mRNA expression was determined by SYBR Green-based real-time quantitative-PCR assay. No association between the PTPN22 +788 G>A polymorphism and RA susceptibility in western Mexican population was found when comparing genotype and allelic frequencies between RA patients and CS (G/G vs. G/A: OR 0.55, p = 0.14, 95% CI 0.22–1.32; G vs. A: OR 0.56, p = 0.14, 95% CI 0.23–1.36). The PTPN22 mRNA expression increased 4.6-fold more in RA patients than in CS, and RA patients, carriers of PTPN22 +788 G/A genotype, expressed 15.6-fold more than RA patients carrying the homozygous G/G genotype. Overall, these results showed that the PTPN22 +788 G>A polymorphism is not associated with RA susceptibility in western Mexican population, whereas the presence of G/A genotype is associated with increased PTPN22 mRNA expression in RA patients.

Keywords

Rheumatoid arthritis PTPN22 expression +788 G>A polymorphism 

Notes

Funding

This investigation was supported by funding from Universidad de Guadalajara - Fortalecimiento de la Investigación y el Posgrado 2018, Grant No. 244159 assigned to José Francisco Muñoz-Valle, Ph.D.

Compliance with Ethical Standards

Conflict of interest

The authors report no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • S. Ramírez-Pérez
    • 1
    • 2
  • G. A. Sánchez-Zuno
    • 1
    • 2
  • L. E. Chavarría-Buenrostro
    • 3
  • M. Montoya-Buelna
    • 3
  • I. V. Reyes-Pérez
    • 3
  • M. G. Ramírez-Dueñas
    • 1
    • 3
  • C. A. Palafox-Sánchez
    • 1
  • G. E. Martínez-Bonilla
    • 4
  • J. F. Muñoz-Valle
    • 1
    • 2
  1. 1.Research Institute in Biomedical Sciences, University Center of Health ScienceUniversity of GuadalajaraGuadalajaraMexico
  2. 2.Transdisciplinary Institute of Research and Services (ITRANS)University of GuadalajaraZapopanMexico
  3. 3.Immunology Laboratory, Department of Physiology, University Center of Health ScienceUniversity of GuadalajaraGuadalajaraMexico
  4. 4.Department of RheumatologyO.P.D. Civil Hospital of Guadalajara “Fray Antonio Alcalde”GuadalajaraMexico

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