Arthritis & Rheumatism, Volume 62,
November 2010 Abstract Supplement

Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Atlanta, Georgia November 6-11, 2010.

Novel Lupus Susceptible Gene Polymorphisms in Patients with Sjgren's Syndrome in Japanese Population.

Horita1,  Tetsuya, Nakagawa1,  Hisako, Kurita1,  Takashi, Odani1,  Toshio, Fujieda1,  Yuichiro, Otomo2,  Kotaro, Kato1,  Masaru

Medicine II, Hokkaido University, Sapporo, Hokkaido, Japan
Medicine II, Hokkaido University


Genetic background of Sjögren's syndrome (SS) is still unknown. SS can occur alone (primary SS) or in conjunction with other autoimmune diseases such as systemic lupus erythematosus (SLE) or rheumatoid arthritis (secondary SS). Several novel lupus susceptible genes were reported in the recent candidate gene approaches and genome wide association studies in Caucasian population. In this study, we analyzed these lupus susceptible gene polymorphisms in patients with SS in Japanese population.

Patients and Methods:

This study comprised 190 SS patients and ethnically matched 428 healthy controls. Patients with SLE were excluded. B lymphocyte specific tyrosine kinase (BLK) (rs13277113), B-cell scaffold protein with ankyrin repeats 1 (BANK1) (rs10516487 and rs3733197), signal transducer and activator of transcription 4 (STAT4) (rs7574865), interferon regulatory factor 5 (IRF5) (rs2004640), tumor necrosis factor ligand superfamily member 13 (TNFSF13) (rs11552708), tumor necrosis factor alpha induced protein 3 (TNFAIP3) (rs13192841, rs2230926 and rs6922466), tumor necrosis factor ligand superfamily member 4 (TNFSF4) (rs844644), rs10798269 in 1q25.1 region were evaluated using TaqMan Genotyping Assay. Allele frequencies in each polymorphism were compared using chi-square test and the related risk was approximated by the odds ratios. In addition, stratification analysis by anti-SS-A and anti-SS-B was performed. The genetic risk scores composed of the numbers of risk alleles in SS susceptible genes were also calculated and the scoring system was evaluated.


The allele frequencies of lupus risk in SS were significantly higher in BLK (odds ratio (OR) =1.61, 95% confidence interval (CI):1.21–2.15), STAT4 (OR=1.83, 95%CI:1.43–2.36), IRF5 (OR=1.40, 95%CI:1.07–1.82) and rs10798269 in 1q25.1 region (OR=1.62, 95%CI:1.20–2.18), compared with those in healthy controls. No significant associations were found in BANK1, TNFSF13, TNFAIP3 and TNFSF4. In stratification analysis. STAT4 was associated with the presence of both anti-SS-A and anti-SS-B, whereas BLK and SNP (rs10798269) in 1q25.1 region were associated with anti-SS-A and IRF5 was associated with anti-SS-B. In genetic risk scoring system for SS, the presence of five or more risk alleles in 4 common susceptible genes (BLK, STAT4, IRF5 and 1q25.1) was strongly associated with SS (OR=2.79, 95%CI:1.89–4.14).


BLK, STAT4, IRF5 and 1q25.1 region were not only lupus susceptible genes but SS susceptible genes in Japanese population. SS share, in part, common genetic background with SLE.

To cite this abstract, please use the following information:
Horita, Tetsuya, Nakagawa, Hisako, Kurita, Takashi, Odani, Toshio, Fujieda, Yuichiro, Otomo, Kotaro, et al; Novel Lupus Susceptible Gene Polymorphisms in Patients with Sjgren's Syndrome in Japanese Population. [abstract]. Arthritis Rheum 2010;62 Suppl 10 :1909
DOI: 10.1002/art.29674

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