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Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis

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Modern Rheumatology

Abstract

The aim of the present study was to evaluate whether the interferon-induced helicase (IFIH1) Ala946Thr (rs1990760 A>G) polymorphism is associated with susceptibility to systemic lupus erythematosus (SLE) and dermatomyositis (DM) or polymyositis (PM) in the Japanese population. The study population consisted of 243 SLE patients, 125 DM/PM patients, and 268 healthy controls from Japan. A Taqman single nucleotide polymorphism genotyping assay was designed for rs1990760 by Applied Biosystems. There were no significant differences between SLE and DM/PM patients and healthy controls regarding the frequency of each genotype and allele. However, the frequency of the AA genotype and the A allele tended to be higher in PM patients with interstitial lung disease (ILD). Additionally, when comparing the AA and AG + GG genotypes at rs1990760, the AA genotype was significantly more frequent in PM patients with ILD than in healthy controls [odds ratio, 3.23 (95% confidence interval, 1.06–9.81); P = 0.04] or in PM patients without ILD [odds ratio, 5.40 (95% confidence interval, 1.37–21.26); P = 0.027]. Our observations suggest that the G allele protects against the onset of ILD and that the AA genotype is a risk factor for lung injury in PM patients.

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Acknowledgments

This study was supported in part by research grants from the Ministry of Health, Labour and Welfare in Japan.

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Authors and Affiliations

  1. Institute of Rheumatology, Tokyo Women’s Medical University, 10-22 Kawada-cho, Shinjuku-Ku, Tokyo, 162-0054, Japan

    Takahisa Gono, Yasushi Kawaguchi, Tomoko Sugiura, Takefumi Furuya, Manabu Kawamoto, Masanori Hanaoka & Hisashi Yamanaka

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  1. Takahisa Gono
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  2. Yasushi Kawaguchi
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  3. Tomoko Sugiura
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  4. Takefumi Furuya
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  5. Manabu Kawamoto
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  6. Masanori Hanaoka
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  7. Hisashi Yamanaka
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Correspondence to Yasushi Kawaguchi.

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Gono, T., Kawaguchi, Y., Sugiura, T. et al. Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis. Mod Rheumatol 20, 466–470 (2010). https://doi.org/10.1007/s10165-010-0311-9

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  • DOI: https://doi.org/10.1007/s10165-010-0311-9

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