title: Association between polymorphisms of the IKZF3 gene and systemic lupus erythematosus in a Chinese Han population.
abstract: OBJECTIVE
  It has been reported that IKAROS family of zinc finger 3 (IKZF3)-deficient mice spontaneously develop human systemic lupus erythematosus (SLE)-like phenotypes and produce anti-dsDNA Ab leading to immune complex-mediated glomerulonephritis. Polymorphism of the IKZF3 gene corresponds with the susceptibility to several immune-related diseases. Our intention was to establish an association between polymorphisms in the IKZF3 gene and SLE in the Chinese Han population.
  
  
  METHODS
  The study involved obtaining blood samples for DNA extraction and genotyping the 4 selected single-nucleotide polymorphisms (SNPs) in IKZF3, including rs12150079, rs9909593, rs907091, and rs2872507, by performing PCR restriction fragment length polymorphism analysis (PCR-RFLP). A group of 366 SLE patients were compared to 455 healthy controls.
  
  
  RESULTS
  A significant decrease in frequencies of the rs907091 CC genotype and C allele appeared in the SLE patients unlike that observed in the controls (p = 0.001 and 0.015, respectively). The frequencies of the rs12150079 genotype and allele were different between the SLE patients and the control individuals, although the significance was only marginal (p = 0.046 and 0.049, respectively). In addition, a significantly low frequency of the GGCG haplotype was observed in the SLE patients, suggesting that it may provide protection against SLE (p = 0.011).
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the first study to demonstrate an important association between polymorphisms in IKZF3 and SLE in the Chinese Han population. A strong association between rs907091 in the IKZF3 gene and SLE was identified.
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China; Department of Immunology, College of Basic Medical Sciences, China Medical University, Shenyang, China.
authors.forename: Xinze
authors.initials: X
authors.lastname: Cai
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Qiao
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Diao
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Xiaoxue
authors.initials: X
authors.lastname: Xu
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Shuyan
authors.initials: S
authors.lastname: Du
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Xudong
authors.initials: X
authors.lastname: Liu
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Nan
authors.initials: N
authors.lastname: Liu
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Yu
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Chen
authors.affiliation: Central Laboratory, First Affiliated Hospital of China Medical University, Shenyang, China; Department of Immunology, College of Basic Medical Sciences, China Medical University, Shenyang, China; Department of Dermatology, First Affiliated Hospital of China Medical University, Shenyang, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Jiang
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D051740:Ikaros Transcription Factor / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide
chemical_list: C106285:IKZF3 protein, human; D051740:Ikaros Transcription Factor