Ludmila Prokunina‐Olsson1, Leonid Padyukov2, Anna M. Bennet2, Ulf dé Fairé2, Björn Wiman2, Jonathan A. Prince2, Lars Alfredsson2, Lars Klareskog2, Marta E. Alarcón‐Riquelme1
1Uppsala University, Uppsala, Sweden
2Karolinska Institutet, Karolinska Hospital, Stockholm Sweden,
Tóm tắt
AbstractObjectiveTo study the frequency of allele A of polymorphism PD‐1.3 of the PDCD1 gene in patients with rheumatoid arthritis (RA) and its subsets, based on the presence of rheumatoid factor (RF) and the shared epitope (SE) alleles.MethodsA total of 1,175 patients with RA and 3,404 controls were genotyped for the PD‐1.3 A/G polymorphism, which previously was identified as being involved in susceptibility to systemic lupus erythematosus (SLE) in patients of European descent.ResultsWe first detected a trend for association of allele A of the single‐nucleotide polymorphism PD‐1.3 with RA (P = 0.053, odds ratio [OR] 1.18, 95% confidence interval [95% CI] 0.99–1.41). To further clarify the nature of this association, patients with RA were divided into 4 groups according to the presence of RF and the SE alleles. Association was found only in the group of patients negative for both RF and the SE alleles (P = 0.0054 [corrected P = 0.015], OR 1.75, 95% CI 1.15–2.65).ConclusionPatients negative for both RF and the SE alleles showed association with the same allele that we previously identified as being involved in susceptibility to SLE. These results provide the first evidence of the involvement of the human PDCD1 gene in arthritis.
