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.

BLK Confers a Risk for Renal Involvement in Japanese Patients with Systemic Lupus Erythematosus.

Shimane2,  Kenichi, Kochi5,  Yuta, Yamada5,  Ryo, Okada1,  Yukinori, Suzuki5,  Akari, Myouzen5,  Keiko, Horita3,  Tetsuya

CGM, RIKEN, Yokohama, Japan
Department of Allergy and Rheumatology, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan
Hokkaido University Graduate School of Medicine, Sapporo, Japan
Keio University School of Medicine, Tokyo, Japan
Laboratory for Autoimmune Diseases, Center for Genomic Medicine, Institute of Physical Chemical Research (CGM, RIKEN), Tokyo, Japan
School of Medicine, Juntendo University, Tokyo, Japan
Tohoku University Graduate School of Medicine, Sendai, Japan
Univ Tokyo Gr Schl of Med, Tokyo, Japan


To find out whether 4 confirmed susceptibility genes to systemic lupus erythematosus (SLE), BLK, STAT4, IRF5 and TNFAIP3, confer genetic predisposition to specific sub-phenotypes of SLE.


Our SLE case-control cohort consisted of 606 patients (mean age 43.4 years, 90.6% women) and 934 unrelated controls (mean age 52.6 years, 25.0% women), and they were all Japanese. We selected four single nucleotide polymorphisms (SNPs), rs13277113 (BLK), rs7574865 (STAT4), rs41298401 (IRF5) and rs2230926 (TNFAIP3), which are established genetic risk factors for SLE shared between Caucasian and Asian populations. We genotyped the SNPs using TaqMan assays. The difference of the genotype frequency was tested with the Chochran-Armitage trend test, using PLINK.


We found a significant association of rs13277113 (BLK) with renal involvement (OR 1.48, 95%CI 1.14–1.93, p=0.0034) and a moderate association of rs41298401 (IRF5) with lupus anticoagulant (LAC) positivity (OR 1.89, 95%CI 1.09–3.26, p=0.022). A stratified analysis between BLK and renal involvement by the morphologic classification (according to World Health Organization morphologic classification of lupus nephritis) indicated that rs13277113 (BLK) was more significantly associated with patients with class III and IV (OR 1.70, 95%CI 1.17–2.46, p=0.0057) than those with class I, II and V (OR 1.20, 95%CI 0.78–1.84, p=0.41), suggesting that BLK may be particularly involved in the progression of proliferative glomerulonephritis.


We demonstrated that polymorphisms in BLK and IRF5 genes are associated with renal involvement and LAC positivity, respectively, in Japanese SLE patients. This suggests that disease susceptibility genes would effect on SLE sub-phenotype.

To cite this abstract, please use the following information:
Shimane, Kenichi, Kochi, Yuta, Yamada, Ryo, Okada, Yukinori, Suzuki, Akari, Myouzen, Keiko, et al; BLK Confers a Risk for Renal Involvement in Japanese Patients with Systemic Lupus Erythematosus. [abstract]. Arthritis Rheum 2010;62 Suppl 10 :1577
DOI: 10.1002/art.29343

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