title: Copy number variations of Interleukin-12B and T-bet are associated with systemic lupus erythematosus.
abstract: OBJECTIVE
  Th1 cells have been implicated as the causal agents in the pathogenesis of autoimmunity. SLE represents the classical prototype of systemic autoimmune disease. Copy number variations (CNVs) have been discovered to have phenotypic consequences and associate with various types of diseases. The current study aims to explore a possible association between CNVs of Th1 cell-related genes and the risk of SLE.
  
  
  METHODS
  Genomic DNA and RNA from 532 SLE patients and 576 healthy controls were extracted. CNVs of Th1 cell-related genes (T-bet, Stat4, IL-12A, IL-12B, IFN-γ, IP-10 and CXCR3) as well as Th2 and Treg cell-related genes (c-Mef, GATA3, Foxp3, IL-6 and TGF-β) were examined, and mRNA levels of IL-12B and T-bet were examined.
  
  
  RESULTS
  Frequencies of IL-12B and T-bet CNVs in SLE patients were significantly higher than those in healthy controls. CNVs of IL-12B and T-bet had no synergistic contribution to SLE. The mRNA levels of IL-12B and T-bet in the samples with more than two copies of DNA were significantly higher than those with two copies of DNA.
  
  
  CONCLUSIONS
  CNVs of IL-12B and T-bet are associated with the risk of SLE.
authors.affiliation: Shenzhen Key Laboratory for Translational Medicine of Dermatology, Shenzhen-PKU-HKUST Medical Center, Department of Dermatology, Shenzhen Hospital Peking University, Biomedical Research Institute, Shenzhen-PKU-HKUST Medical Center, Shenzhen, Guangdong.
authors.forename: Bo
authors.initials: B
authors.lastname: Yu
authors.forename: Yong
authors.initials: Y
authors.lastname: Shao
authors.forename: Xupeng
authors.initials: X
authors.lastname: Yue
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Ming
authors.initials: M
authors.lastname: Guan
authors.forename: Jun
authors.initials: J
authors.lastname: Wan
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D053762:Interleukin-12 Subunit p40 / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011379:Prognosis; D012333:RNA, Messenger / Q000032:analysis; D012016:Reference Values; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018570:Risk Assessment; D020825:T-Box Domain Proteins / Q000235:genetics*; D018417:Th1 Cells / Q000276:immunology; D055815:Young Adult
chemical_list: C500879:IL12B protein, human; D053762:Interleukin-12 Subunit p40; D012333:RNA, Messenger; D020825:T-Box Domain Proteins