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Takehiko Inoue, MD; Ryutaro Kira, MD, PhD; Futoshi Nakao, MD; Kenji Ihara, MD, PhD; Wafaa M. Bassuny, MD; Koichi Kusuhara, MD, PhD; Kenji Nihei, MD, PhD; Kenzo Takeshita, MD, PhD; Toshiro Hara, MD, PhD

Arch Neurol. 2002;59:822-827.

Background  Although the exact pathogenesis of subacute sclerosing panencephalitis (SSPE) remains to be determined, both viral and host factors seem to be involved.

Objective  To identify host genetic factors involved in the development of SSPE.

Methods  We investigated the association of polymorphisms in the T helper (Th)1 and Th2 cytokine, and related genes (interferon [IFN]-, IFN- receptor 1 [IFN- R1], IFN-R2 [IRF-1], interleukin 12 receptor 1 [IL-12R1], IL-4, IL-4R, and IL-10 genes) with SSPE in Japanese subjects.

Results  A significant association (P = .03) was observed between SSPE and the T allele of the biallelic polymorphism at position -589 in the promoter region of the IL-4 gene. The IRF-1 allele 1 tended to interact with the IL-4 promoter -589 Tgenotype in the development of SSPE (P = .06), as judged on logistic regression analysis. The frequency of the genotype combination of IL-4 promoter -589 T and IRF-1 allele 1 (at least 1 allele) in patients with SSPE was much higher than that in the controls (47.7% vs 22.0%; P = .003, ² analysis). However, there was no association between other polymorphisms and SSPE.

Conclusion  To our knowledge, this study is the first to demonstrate the possibility that the IL-4 promoter gene –589 T gene polymorphism with increased IL-4 synthesis in combination with IRF-1 allele 1 confers host genetic susceptibility to SSPE in Japanese subjects.

From the Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka (Drs Inoue, Kira, Nakao, Ihara, Bassuny, Kusuhara, and Hara), Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago (Drs Inoue and Takeshita), and the Division of Neurology, National Children's Hospital, Tokyo (Dr Nihei), Japan.

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