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[HLA DRB1 polymorphism in rhizomelic pseudo-polyarthritis and Horton disease]
Abstract:
Some studies have suggested that distribution of HLA DRB1 alleles in polymyalgia rheumatica (PMR) resembles that found in giant cell arteritis (GCA). However these data are controversial. OBJECTIVE--To evaluate in French native patients whether PMR immunogenetically resembles GCA in determining HLA DRB1 alleles. PATIENTS AND METHODS--Fourty-five patients were included in the study. Twenty-one patients with PMR alone (Bird's criteria) and 24 with GCA (ACR criteria). In 11 patients, GCA was associated with PMR. HLA DRB1 genotype was determined by PCR-RFLP analysis. Statistical analysis was performed by the chi 2 test and determination of the odds ratio (OR). Two hundred and thirty-three unselected normal healthy subjects served as controls. RESULTS--A significant increased prevalence of HLA DR1 was observed in patient with PMR alone and an absence of DR7 (0% vs 10.3%, p = 0.02, OR = 0.1). An increased incidence of DR4 and particularly *0401 allele was only found in patients with GCA (OR = 2.4). No patient with isolated PMR had DR7 genotype compared with 25% in GCA (p < 0.001, OR = 0.03). A comparative study between isolated PMR versus GCA showed a significant increased in DR1 and DR3 alleles in isolated PMR and a significant increased prevalence of DR4 and DRB1 *0701 allele in GCA. CONCLUSION--The present study emphasizes the absence of similarity in HLA DRB1 allele distribution between PMR and GCA. The association of DR7 in patient with GCA seems characteristic in French native patients.
Insights
Polymyalgia rheumatica (PMR) and giant cell arteritis (GCA) do not share similar HLA DRB1 allele distributions. Specifically, HLA DR7 is absent in PMR patients but characteristic in GCA patients.
Area of Science:
- Immunogenetics
- Rheumatology
Background:
- Previous studies suggested overlapping HLA DRB1 allele distributions between polymyalgia rheumatica (PMR) and giant cell arteritis (GCA).
- These findings remain controversial and require further investigation.
Purpose of the Study:
- To investigate immunogenetic similarities between PMR and GCA by analyzing HLA DRB1 allele distribution in French patients.
- To clarify the controversial data regarding shared genetic markers between these two conditions.
Main Methods:
- Genotyping of HLA DRB1 alleles using PCR-RFLP analysis in 45 patients (21 with PMR, 24 with GCA).
- Statistical analysis included chi-squared tests and odds ratio calculations.
- Comparison with 233 healthy controls.
Main Results:
- A significant increase in HLA DR1 was observed in PMR patients, with an absence of HLA DR7.
- Increased incidence of HLA DR4, particularly the *0401 allele, was found in GCA patients.
- HLA DR7 was significantly more prevalent in GCA patients (25%) compared to isolated PMR patients (0%).
Conclusions:
- The HLA DRB1 allele distribution differs significantly between PMR and GCA.
- HLA DR1 and DR3 alleles are more common in isolated PMR.
- HLA DR4 and DRB1 *0701 alleles are characteristic of GCA in French native patients.