Background It is now well established that genetic variations in HLA-DRB1 region may influence susceptibility to rheumatoid arthritis (RA). However genetic component of the disease severity has not been fully elucidated.
Objectives The goal of the study was to assess the association of the HLA-DRB1 gene with different markers of severity of the disease.
Methods Seventy six patients with RA and one hundred fifty two healthy controls were typed for HLA-DRB1 gene by molecular method (PCR-SSO). Clinical, radiographic and immunological assessment of patients was carried out. In order to compare disease progression in patients with different disease duration we introduced joint destruction index (JDI) defined as the number of eroded joints (II-IVo Steinbrocker’s stage) per years of the disease duration.
Results DRB1*04 alleles were present in 47% of RA patients and in 25% healthy controls (OR = 2,7; pcor = 0,01). The frequency of DRB1*04 alleles was higher in patients with: 1) rheumatoid factor (RF) positive RA vs RF negative RA (OR = 14,9; pcor = 0,001); 2) primarily chronic course of disease vs acute course of disease (OR = 4,7; pcor = 0,03) and familial incidence of RA comparing to patients without familial history of RA (OR = 7,8; pcor = 0,02). DRB1*04 alleles were significantly more frequent in patients with more intensive joint destruction reflected by JDI equal or higher than 1 (OR = 12,2; pcor = 0,001). We did not observed differences in frequencies of DRB1*01 alleles neither between patients and controls nor between subgroups of RA patients.
Conclusion Our study confirmed association of DRB1*04 alleles not only with susceptibility to RA but with clinical features of the disease as well.
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