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New HLA DNA polymorphisms associated with rheumatoid arthritis
S D Cutbush1, W Ollier, J Awad
1Department of Immunology, London Hospital Medical College.
Disease Markers
|June 1, 1986
Summary
Restriction fragment length polymorphisms (RFLP) reveal new DNA patterns, DQ beta omega and DQ beta phi, associated with HLA haplotypes. These patterns correlate with extra-articular manifestations and nodules/erosions in rheumatoid arthritis patients.
Area of Science:
- Immunogenetics
- Molecular Anthropology
- Human Leukocyte Antigen (HLA) Complex
Background:
- Restriction enzyme fragment length polymorphisms (RFLP) are valuable tools for studying DNA variations.
- Previous research identified DNA polymorphisms in individuals with DR4, particularly concerning the DQ beta probe.
- Understanding these polymorphisms is crucial for investigating associations with autoimmune diseases like rheumatoid arthritis (RA).
Purpose of the Study:
- To further clarify DNA polymorphisms detected in DR4 positive individuals using a DQ beta probe.
- To investigate the association of these polymorphisms with specific HLA haplotypes and subdivisions of DQw3.
- To explore the correlation between identified DNA patterns and clinical manifestations in rheumatoid arthritis (RA) patients.
Main Methods:
- Utilized restriction enzyme fragment length polymorphisms (RFLP) analysis with a DQ beta probe.
- Characterized two novel DNA patterns, DQ beta omega and DQ beta phi, in homozygous typing cells (HTCs).
- Analyzed segregation of these patterns within families and their association with various HLA Class I and II antigens.
Main Results:
- Identified and characterized DQ beta omega and DQ beta phi patterns, suggesting they may be polymorphisms of the DX beta gene.
- Observed associations between these patterns and specific HLA haplotypes, forming two preferential allelic associations (PAA1 and PAA2).
- Found significantly higher frequencies of DQ beta omega in RA patients with extra-articular manifestations (EA) and DQ beta phi in those with nodules/erosions (N/ER).
Conclusions:
- The study elucidates novel DNA polymorphisms (DQ beta omega and DQ beta phi) linked to HLA haplotypes.
- These polymorphisms show distinct associations with clinical features of rheumatoid arthritis, particularly extra-articular manifestations and joint damage.
- Findings suggest potential utility of these RFLP patterns as genetic markers for specific RA phenotypes.