Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Systemic lupus erythematosus (SLE) is an autoimmune disease influenced by genetic and environmental factors. We carried out a genome-wide association scan and replication study and found an association between SLE and a variant in TNFAIP3 (rs5029939, meta-analysis P = 2.89 x 10(-12), OR = 2.29). We also found evidence of two independent signals near TNFAIP3 associated with SLE, including one previously associated with rheumatoid arthritis (RA). These results establish that variants near TNFAIP3 contribute to differential risk of SLE and RA.
Graham
Robert R
RR
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
Cotsapas
Chris
C
Davies
Leela
L
Hackett
Rachel
R
Lessard
Christopher J
CJ
Leon
Joanlise M
JM
Burtt
Noel P
NP
Guiducci
Candace
C
Parkin
Melissa
M
Gates
Casey
C
Plenge
Robert M
RM
Behrens
Timothy W
TW
Wither
Joan E
JE
Rioux
John D
JD
Fortin
Paul R
PR
Graham
Deborah Cunninghame
DC
Wong
Andrew K
AK
Vyse
Timothy J
TJ
Daly
Mark J
MJ
Altshuler
David
D
Moser
Kathy L
KL
Gaffney
Patrick M
PM
D001172:Arthritis, Rheumatoid / Q000235:genetics; D002896:Chromosomes, Human, Pair 6; D004268:DNA-Binding Proteins; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3
D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3