title: A novel polymorphism of the SSA1 gene is associated with anti-SS-A/Ro52 autoantibody in Japanese patients with primary Sjögren's syndrome.
abstract: OBJECTIVE
  To investigate the association of polymorphisms of the SSA1 gene (OMIM 109092) with primary Sjögren's syndrome (SS) and anti-SS-A/Ro52 antibody production.
  
  
  METHODS
  Polymorphisms of SSA1 gene in 111 Japanese SS patients and in 97 healthy controls were analyzed with polymerase chain reaction and automated DNA sequencing.
  
  
  RESULTS
  A new single-nucleotide polymorphism (SNP) was identified in intron 1 at position 7216. The allele frequency and genotype of 7216A/G were not significantly different between SS patients and control subjects. However, the allele frequency and genotype of 7216A/G were associated with the presence of anti-SS-A/Ro52 antibody among primary SS patients. The association was not found in patients with SLE, suggesting the limited role for the SNP in anti-SS-A/Ro52 antibody production. The 9571C/T polymorphism, which has been shown to associate with anti-SS-A/Ro52 antibody in Caucasian patients, was not associated with the presence of anti-SS-A/Ro52 antibody in Japanese patients.
  
  
  CONCLUSIONS
  7216A/G polymorphism of SSA1 gene may be one of the genetic factors that determine the presence of anti-SS-A/Ro52 antibody in patients with primary SS.
authors.affiliation: Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Imanishi
authors.forename: A
authors.initials: A
authors.lastname: Morinobu
authors.forename: N
authors.initials: N
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Kanagawa
authors.forename: M
authors.initials: M
authors.lastname: Koshiba
authors.forename: S
authors.initials: S
authors.lastname: Kondo
authors.forename: S
authors.initials: S
authors.lastname: Kumagai
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000276:immunology*; D000974:Antibodies, Antinuclear / Q000235:genetics; D001323:Autoantibodies / Q000097:blood; D020022:Genetic Predisposition to Disease; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D007564:Japan; D020641:Polymorphism, Single Nucleotide; D012261:Ribonucleoproteins / Q000235:genetics / Q000276:immunology; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics* / Q000276:immunology*; D012859:Sjogren's Syndrome / Q000235:genetics* / Q000276:immunology*; D000099207:SS-A Antigen
chemical_list: D000251:Adenosine Triphosphatases; D000974:Antibodies, Antinuclear; D001323:Autoantibodies; D018840:HSP70 Heat-Shock Proteins; D012261:Ribonucleoproteins; D029701:Saccharomyces cerevisiae Proteins; D000099207:SS-A Antigen; C095973:SSA1 protein, S cerevisiae