Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus.
The TNFAIP3 (tumor necrosis factor alpha-induced protein 3) gene encodes a ubiquitin editing enzyme, A20, that restricts NF-kappaB-dependent signaling and prevents inflammation. We show that three independent SNPs in the TNFAIP3 region (rs13192841, rs2230926 and rs6922466) are associated with systemic lupus erythematosus (SLE) among individuals of European ancestry. These findings provide critical links between A20 and the etiology of SLE.
Musone
Stacy L
SL
Cardiovascular Research Institute, Department of Medicine, University of California San Francisco, San Francisco, California 94143, USA.
Taylor
Kimberly E
KE
Lu
Timothy T
TT
Nititham
Joanne
J
Ferreira
Ricardo C
RC
Ortmann
Ward
W
Shifrin
Nataliya
N
Petri
Michelle A
MA
Kamboh
M Ilyas
MI
Manzi
Susan
S
Seldin
Michael F
MF
Gregersen
Peter K
PK
Behrens
Timothy W
TW
Ma
Averil
A
Kwok
Pui-Yan
PY
Criswell
Lindsey A
LA
D004268:DNA-Binding Proteins; D020022:Genetic Predisposition to Disease; 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; D044465:White People / Q000235:genetics
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