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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.
Abstract:
We study the association between three protein kinase C, eta gene polymorphisms (+8134C/T, rs912620, rs959728), and susceptibility to rheumatoid arthritis. One hundred French Caucasian rheumatoid arthritis trio families were genotyped. Relative quantification of protein kinase C, eta mRNA expression was performed from whole blood in 24 unrelated rheumatoid arthritis patients and in 16 healthy controls. Our results showed no significant association or linkage between the protein kinase C, eta polymorphisms, and rheumatoid arthritis. The protein kinase C, eta mRNA was expressed at lower level in rheumatoid arthritis unrelated patients than in healthy controls. This study shows that protein kinase C, eta gene is not a Rheumatoid Arthritis major susceptibility genetic factor in the French Caucasian population. Furthermore, the lower expression of this gene in rheumatoid arthritis patients comparing to healthy controls suggests that protein kinase C, eta could be associated with the patho-physiologic mechanism of rheumatoid arthritis.
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