Background Rheumatoid arthritis (RA) is a complex, chronic autoimmune disease (AID) that affects approximately 0.5%–1% of the population worldwide. RA is considered to be complex diseases of unknown etiology, where the environmental, immunological and genetic factors contributed to susceptibility and severity of the disease. Since the first evidence suggesting the involvement of human leukocyte antigens (HLAs) in RA was reported in 1969, the HLA region have been at the center of genetic studies of RA.
Objectives We undertook this study to elucidate the association between HLA-DRB1 alleles profile and susceptibility to and severity of RA in a Polish population.
Methods We analyzed the data on a total of 472 RA patients in whom HLA-DRB1 allele genotyping had been performed. DNA sequences for exon 2 of the DRB1 locus were typed using polymerase chain reaction-sequence-based typing (PCR-SBT).
Results Identification of the variants potentially associated with risk and protection was carried out by comparison to the DKMS Polish Bone Marrow Donor Registry (41306 alleles). A significant increase in the frequency of the HLA-DRB1*15:01 (p=0.001), DRB1*04 (p<0.0001), DRB1*01:01 (p<0.0001),DRB1*10:01 (p=0.003) and *09:01 (p<0.0001) were identified in patients with RA and showed strong association with the disease susceptibility. Furthermore, the HLA-DRB1*07:01 allele was found to be protective (p<0.0001) in our RA patients. In the RA patients with HLA-DRB1*52:01 allele the mean value of PLT (p=0.03) and organ symptoms (p=0.02) were more frequent than in RA patients without this allele. In RA patients with DRB1*01:01, DRB*04 as well as DRB1*15:01 alleles the number of tender joints (p=0.03), diabetes (p=0.03) and renal failure) p=0.03) were observed less frequently compared with RA patients without these alleles. We also observed that in RA patients with DRB1*10:01 the VAS score was higher than in RA patients without this allele.
No association was detect between the HLA-DRB1*07:01 and DRB1*09:01 and disease activity and laboratory parameters among RA patients.
Conclusions Current finding indicated that HLA-DRB1*15:01 DRB1*04, DRB1*01:01 and DRB1*10:01 alleles may be associated with susceptibility to as well as severity of RA.
Disclosure of Interest None declared