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Published on: April 1, 2019
P2X7 receptor gene polymorphism analysis in rheumatoid arthritis
A Al-Shukaili1, J Al-Kaabi, B Hassan
1Department of Microbiology & Immunology, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. shukaily@squ.edu.om
International Journal of Immunogenetics
|June 8, 2011
Summary
Certain P2X7 receptor gene polymorphisms may increase rheumatoid arthritis (RA) susceptibility. Specifically, the 1068 A/A polymorphism was more common in RA patients and linked to higher C-reactive protein levels.
Area of Science:
- Genetics and Immunology
- Molecular Biology
- Rheumatology
Background:
- The P2X7 receptor (P2X7R) is crucial in monocytic cells, mediating inflammatory responses.
- Numerous single nucleotide polymorphisms (SNPs) exist in the P2X7R gene, but few are functionally characterized.
- Rheumatoid arthritis (RA) is an autoimmune disease with complex genetic underpinnings.
Purpose of the Study:
- To investigate the association between P2X7R gene polymorphisms and susceptibility to rheumatoid arthritis (RA).
- To determine if specific P2X7R SNPs correlate with clinical markers in RA patients.
Main Methods:
- Genotyping of P2X7R polymorphisms in 125 RA patients and 158 healthy controls using PCR amplification and DNA sequencing.
- Analysis of allele and genotype frequencies for several P2X7R SNPs.
- Correlation of identified polymorphisms with rheumatoid factor, anti-MCV autoantibody, and C-reactive protein levels.
Main Results:
- No significant difference in allele frequencies for 489 C→T, 1096 C→G, and 1513 A→C polymorphisms between RA patients and controls.
- The 1513 A/C genotype was associated with rheumatoid factor and anti-MCV autoantibody positivity in RA patients.
- The 1068 A/A genotype frequency was significantly higher (0.19 vs. 0.09) in RA patients compared to controls and associated with elevated C-reactive protein levels.
Conclusions:
- P2X7R gene polymorphisms at positions 1068 and 1513 may contribute to RA pathogenesis.
- The 1068 A/A polymorphism is a potential risk factor for RA and associated with inflammation markers.
- Commonly studied P2X7R SNPs (489 C→T, 1096 C→G) do not appear to confer susceptibility to RA in this population.
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