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. 2008 Sep;40(9):1062-4.
doi: 10.1038/ng.202.

Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus

Stacy L Musone  1 , Kimberly E Taylor, Timothy T Lu, Joanne Nititham, Ricardo C Ferreira, Ward Ortmann, Nataliya Shifrin, Michelle A Petri, M Ilyas Kamboh, Susan Manzi, Michael F Seldin, Peter K Gregersen, Timothy W Behrens, Averil Ma, Pui-Yan Kwok, Lindsey A Criswell
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Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus

Stacy L Musone et al. Nat Genet. 2008 Sep.

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.

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Conflict of interest statement

COMPETING INTERESTS STATEMENT

The authors declare competing financial interests: details accompany the full-text HTML version of the paper at http://www.nature.com/naturegenetics/.

Figures

Figure 1
Figure 1
TNFAIP3 region showing D′ for genotypes of all study subjects and location of independently associated SNPs. SNPs shown are those passing quality control in the initial 500-kb region. Independent SNPs based on conditional analysis (Supplementary Table 2) are indicated by rs number. rs13192841 and rs12527282 are collinear; one allele determines the other in >99% of subjects. D′ plot, generated in Haploview, indicates D′ between pairs of SNPs; darker red indicates higher D′.
See this image and copyright information in PMC

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