title: Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus.
abstract: 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.
authors.affiliation: Cardiovascular Research Institute, Department of Medicine, University of California San Francisco, San Francisco, California 94143, USA.
authors.forename: Stacy L
authors.initials: SL
authors.lastname: Musone
authors.forename: Kimberly E
authors.initials: KE
authors.lastname: Taylor
authors.forename: Timothy T
authors.initials: TT
authors.lastname: Lu
authors.forename: Joanne
authors.initials: J
authors.lastname: Nititham
authors.forename: Ricardo C
authors.initials: RC
authors.lastname: Ferreira
authors.forename: Ward
authors.initials: W
authors.lastname: Ortmann
authors.forename: Nataliya
authors.initials: N
authors.lastname: Shifrin
authors.forename: Michelle A
authors.initials: MA
authors.lastname: Petri
authors.forename: M Ilyas
authors.initials: MI
authors.lastname: Kamboh
authors.forename: Susan
authors.initials: S
authors.lastname: Manzi
authors.forename: Michael F
authors.initials: MF
authors.lastname: Seldin
authors.forename: Peter K
authors.initials: PK
authors.lastname: Gregersen
authors.forename: Timothy W
authors.initials: TW
authors.lastname: Behrens
authors.forename: Averil
authors.initials: A
authors.lastname: Ma
authors.forename: Pui-Yan
authors.initials: PY
authors.lastname: Kwok
authors.forename: Lindsey A
authors.initials: LA
authors.lastname: Criswell
mesh_terms: 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
chemical_list: 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