NDLI: TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis development

Content Provider	Springer Nature Link
Author	Perricone, Carlo Ciccacci, Cinzia Ceccarelli, Fulvia Fusco, Davide Spinelli, Francesca Romana Cipria, Enrica velli, Giuseppe Valesini, Guido Conti, Fabrizio Borgiani, Paola
Copyright Year	2013
Abstract	Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease. Although genetic factors confer susceptibility to the disease, only 15 % of the genetic contribution has been identified. TRAF3IP2 gene, associated with susceptibility to psoriatic arthritis and psoriasis, encodes for Act1, a negative regulator of adaptive immunity and a positive signaling adaptor in IL-17-mediated immune responses. The aim of this study was to assess the role of TRAF3IP2 gene variability in SLE susceptibility and disease phenotype in an Italian population. Two hundred thirty-nine consecutive SLE patients were enrolled. Study protocol included complete physical examination; the clinical and laboratory data were collected. Two hundred seventy-eight age- and ethnicity-matched healthy subjects served as controls. TRAF3IP2 polymorphisms (rs33980500, rs13190932, and rs13193677) were analyzed in both cases and controls. Genotype analysis was performed by allelic discrimination assays. A case–control association study and a genotype–phenotype correlation were performed. The rs33980500 and rs13193677 resulted significantly associated with SLE susceptibility (P = 0.021, odds ratio (OR) = 1.71, and P = 0.046, OR = 1.73, respectively). All three TRAF3IP2 single nucleotide polymorphisms resulted associated with the development of pericarditis; in particular, rs33980500 showed the strongest association (P = 0.002, OR 2.59). This association was further highlighted by binary logistic regression analysis. In conclusion, our data show for the first time the contribution of TRAF3IP2 genetic variability in SLE susceptibility, providing further suggestions that common variation in genes that function in the adaptive and innate arms of the immune system are important in establishing SLE risk. Our study also shows that this gene may affect disease phenotype and, particularly, the occurrence of pericarditis.
Starting Page	703
Ending Page	709
Page Count	7
File Format	PDF
ISSN	00937711
Journal	Immunogenetics
Volume Number	65
Issue Number	10
e-ISSN	14321211
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2013-07-09
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Systemic lupus erythematosus TRAF3IP2 gene Act1 Polymorphisms Pericarditis Antibodies Immunology Human Genetics Gene Function Cell Biology Allergology
Content Type	Text
Resource Type	Article
Subject	Genetics Immunology

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