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Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes
Human Molecular Genetics, 06/15/09

Barton A et al. – Study reports a novel association of AFF3 with rheumatoid arthritis (RA) susceptibility; also confirms the association of RA with 2 other loci (CTLA4 and IL2-21/4q27). A total of 13 loci have now been confirmed as associated with RA susceptibility, firmly establishing the concept of common susceptibility loci for autoimmunity.

Methods

Aim was to determine if type 1 diabetes (T1D) susceptibility genes/loci are also associated with RA

Results

Combined sample cohort of 6,819 RA cases and 12,650 controls
A novel RA susceptibility locus at AFF3 was identified with convincing evidence for association
Association of 2 previously described loci (CTLA-4 and 4q27) with RA was also replicated
These findings take the number of established RA susceptibility loci to 13
Out of these only one has not been associated with other autoimmune diseases (TRAF1/C5)

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