Association of PD-1.3A allele of the PDCD1 gene in patients with RA negative for RF and the shared epitope

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Arthritis Rheum. 2004 Jun;50(6):1770-3.

Association of the PD-1.3A allele of the PDCD1 gene in patients with

rheumatoid arthritis negative for rheumatoid factor and the shared

epitope.

Prokunina L, Padyukov L, Bennet A, de Faire U, Wiman B, Prince J,

Alfredsson L, Klareskog L, Alarcon-Riquelme M.

Uppsala University, Uppsala, Sweden.

OBJECTIVE: To 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. METHODS: A 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.

RESULTS: We 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).

CONCLUSION: Patients 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.

PMID: 15188352

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