title: Single nucleotide polymorphisms in the gene encoding the major histocompatibility complex class II transactivator (CIITA) in systemic lupus erythematosus.
abstract: BACKGROUND
  The major histocompatibility complex (MHC) class II transactivator (CIITA) is a master switch of antigen presentation and activates expression of the MHC II gene. Insufficient up regulation of MHC class II molecules is reported to be one of the major immunological mechanisms in systemic lupus erythematosus (SLE).
  
  
  OBJECTIVE
  To examine the association between single nucleotide polymorphisms (SNPs) in the human CIITA gene (MHC2TA) and SLE.
  
  
  METHODS
  Promoters and coding regions of MHC2TA were evaluated for polymorphisms in 100 patients with SLE and 100 healthy donors. Eight oligonucleotide primer sets that covered the coding region and each promoter region were used for genomic analysis of SNPs.
  
  
  RESULTS
  Allele frequencies of previously reported SNPs did not differ between healthy donors and patients with SLE. Additionally, a new polymorphism in an intronic region at nt 485 (A-->A/G) was identified, which is close to the polymorphism at nt 474 that has been associated with one of the disease causing CIITA cDNA mutations in bare lymphocyte syndrome. This SNP was found in 11% of patients with SLE and in 3% of healthy donors, suggesting it may have a role in the pathogenesis of SLE.
  
  
  CONCLUSIONS
  A newly identified polymorphism in an intronic region at nt 485 (A-->A/G) may have an important role in the pathogenesis of SLE.
authors.affiliation: Institute of Rheumatology, Tokyo Women's Medical University, 10-22 Kawada-cho, Shinjuku, Tokyo 162-0054, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Koizumi
authors.forename: H
authors.initials: H
authors.lastname: Okamoto
authors.forename: N
authors.initials: N
authors.lastname: Iikuni
authors.forename: T
authors.initials: T
authors.lastname: Nakamura
authors.forename: M
authors.initials: M
authors.lastname: Kawamoto
authors.forename: S
authors.initials: S
authors.lastname: Momohara
authors.forename: N
authors.initials: N
authors.lastname: Ichikawa
authors.forename: T
authors.initials: T
authors.lastname: Furuya
authors.forename: S
authors.initials: S
authors.lastname: Kotake
authors.forename: A
authors.initials: A
authors.lastname: Taniguchi
authors.forename: H
authors.initials: H
authors.lastname: Yamanaka
authors.forename: N
authors.initials: N
authors.lastname: Kamatani
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D018076:DNA, Complementary / Q000235:genetics; D005787:Gene Frequency; D005802:Genes, MHC Class II; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; C083728:MHC class II transactivator protein; D009687:Nuclear Proteins; D015534:Trans-Activators