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Japanese Journal of Clinical Immunology
Article . 2010 . Peer-reviewed
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Association of IRF5, STAT4 and BLK with systemic lupus erythematosus and other rheumatic diseases.

Authors: Ikue Ito; Aya Kawasaki; Naoyuki Tsuchiya;

Association of IRF5, STAT4 and BLK with systemic lupus erythematosus and other rheumatic diseases.

Abstract

Recent large-scale studies in the Caucasian populations identified many new susceptibility genes to systemic lupus erythematosus (SLE). In this review, we discuss our findings on some of such genes, interferon regulatory factor 5 (IRF5), signal transducer and activator of transcription 4 (STAT4) and B lymphoid tyrosine kinase (BLK), in the Japanese population. All of these genes were associated with SLE also in Japanese; however, there are notable differences. In IRF5, the risk haplotype in Caucasians was not present in Japanese. Instead, a SNP that does not exist in Caucasians defined a protective haplotype in Japanese. In STAT4 and especially in BLK, the risk allele frequency was substantially larger in the Japanese population than in Caucasians; as a result, the genetic contribution of these genes in the population is considered to be greater in the Japanese. Presence of susceptibility genes shared by the Caucasian and Asian populations as well as population-specific susceptibility genes was supported by the first genome-wide association study in the Asians published from China in 2009. We and other investigators also found that IRF5, STAT4 and BLK are associated not only with SLE, but also rheumatoid arthritis and systemic sclerosis. Thus, a substantial proportion of susceptibility genes are shared by multiple autoimmune rheumatic diseases.

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Keywords

Risk, B-Lymphocytes, Protein-Tyrosine Kinases, STAT4 Transcription Factor, Asian People, Gene Frequency, Haplotypes, Rheumatic Diseases, Interferon Regulatory Factors, Humans, Lupus Erythematosus, Systemic, Genetic Predisposition to Disease, Genome-Wide Association Study

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    popularity
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    influence
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
16
Average
Average
Average
gold