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Association and expression study of PRKCH gene in a French Caucasian population with rheumatoid arthritis

Vitor Hugo Teixeira1, Laurent Jacq, Jeoiakim Moore

  • 1GenHotel-EA3886, Evry-Paris VII Universities, Evry-Genopole, France. vitor@polyarthrite.net

Insights

Genetic variations in the protein kinase C, eta gene are not linked to rheumatoid arthritis susceptibility in French Caucasians. However, lower gene expression in patients suggests a role in rheumatoid arthritis pathogenesis.

Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Rheumatology

Background:

  • Rheumatoid arthritis (RA) is a chronic autoimmune disease with complex genetic underpinnings.
  • Protein kinase C, eta (PKCη) is implicated in inflammatory processes, making its gene a candidate for RA susceptibility.

Purpose of the Study:

  • To investigate the association between specific protein kinase C, eta gene polymorphisms and susceptibility to rheumatoid arthritis (RA) in a French Caucasian population.
  • To evaluate the expression levels of protein kinase C, eta mRNA in RA patients compared to healthy controls.

Main Methods:

  • Genotyping of three protein kinase C, eta gene polymorphisms (rs912620, rs959728, +8134C/T) in 100 French Caucasian RA trio families.
  • Quantitative mRNA expression analysis of protein kinase C, eta in whole blood from 24 RA patients and 16 healthy controls.

Main Results:

  • No significant association or linkage was found between the studied protein kinase C, eta gene polymorphisms and rheumatoid arthritis.
  • Protein kinase C, eta mRNA expression was significantly lower in RA patients compared to healthy controls.

Conclusions:

  • The protein kinase C, eta gene is not a major genetic susceptibility factor for rheumatoid arthritis in the French Caucasian population.
  • Reduced protein kinase C, eta expression in RA patients suggests a potential role in the disease's pathophysiology, warranting further investigation.