REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

Academic Article


  • We conducted a genome-wide association study of rheumatoid arthritis in 2,418 cases and 4,504 controls from North America and identified an association at the REL locus, encoding c-Rel, on chromosome 2p13 (rs13031237, P = 6.01 x 10(-10)). Replication in independent case-control datasets comprising 2,604 cases and 2,882 controls confirmed this association, yielding an allelic OR = 1.25 (P = 3.08 x 10(-14)) for marker rs13031237 and an allelic OR = 1.21 (P = 2.60 x 10(-11)) for marker rs13017599 in the combined dataset. The combined dataset also provides definitive support for associations at both CTLA4 (rs231735; OR = 0.85; P = 6.25 x 10(-9)) and BLK (rs2736340; OR = 1.19; P = 5.69 x 10(-9)). c-Rel is an NF-kappaB family member with distinct functional properties in hematopoietic cells, and its association with rheumatoid arthritis suggests disease pathways that involve other recently identified rheumatoid arthritis susceptibility genes including CD40, TRAF1, TNFAIP3 and PRKCQ.
  • Published In

  • Nature Genetics  Journal
  • Keywords

  • Arthritis, Rheumatoid, Genes, rel, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide
  • Digital Object Identifier (doi)

    Pubmed Id

  • 16357868
  • Author List

  • Gregersen PK; Amos CI; Lee AT; Lu Y; Remmers EF; Kastner DL; Seldin MF; Criswell LA; Plenge RM; Holers VM
  • Start Page

  • 820
  • End Page

  • 823
  • Volume

  • 41
  • Issue

  • 7