A novel polymorphism of the SSA1 gene is associated with anti-SS-A/Ro52 autoantibody in Japanese patients with primary Sjögren's syndrome.
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.
Imanishi
T
T
Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan.
Morinobu
A
A
Hayashi
N
N
Kanagawa
S
S
Koshiba
M
M
Kondo
S
S
Kumagai
S
S
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
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