Gene variants of interferon induced with helicase C domain 1 in Japanese patients with Dermatomyositis-associated rapidly progressive interstitial lung disease: a genetic association study using whole-exome and Sanger sequencing

This study identified genetic biomarkers associated with the risk of RP-ILD in patients with DM. These findings suggest that analysis of IFIH1 variants may serve as a valuable tool for predicting the development of RP-ILD in this patient population.

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Publication Details

Journal
Respiratory Research
Published
2025-10-31
DOI
https://doi.org/10.1186/s12931-025-03379-3
Primary Topic
Inflammatory Myopathies and Dermatomyositis
Type
article
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article

Gene variants of interferon induced with helicase C domain 1 in Japanese patients with Dermatomyositis-associated rapidly progressive interstitial lung disease: a genetic association study using whole-exome and Sanger sequencing

Hironao Hozumi, Akira Yoshida, Yoshiaki Zaizen, Noriho Sakamoto et al.
Respiratory Research
Inflammatory Myopathies and Dermatomyositis
article

Gene variants of interferon induced with helicase C domain 1 in Japanese patients with Dermatomyositis-associated rapidly progressive interstitial lung disease: a genetic association study using whole-exome and Sanger sequencing

Hironao Hozumi, Akira Yoshida, Yoshiaki Zaizen, Noriho Sakamoto, Yasuhiko Yamano, Tomoaki Hoshino, Toshimasa Shimizu, Yasuhiro KONDOH, Motoko Ishida, Hiroshi Mukae, Atsushi Kawakami, Tomoya Miyamura, Masaki Okamoto, Shinjiro Kaieda, Masataka Kuwana, Ken Yamamoto, Takahisa Gono, Takafumi Suda, Norikazu Matsuo
article en

Abstract

This study identified genetic biomarkers associated with the risk of RP-ILD in patients with DM. These findings suggest that analysis of IFIH1 variants may serve as a valuable tool for predicting the development of RP-ILD in this patient population.

Respiratory ResearchVol. 26(1)
Kurume University (JP), Aichi Medical University (JP), National Kyushu Medical Center (JP), Hamamatsu University School of Medicine (JP), Kurume University Medical Center (JP), Frederick National Laboratory for Cancer Research (US), Tosei General Hospital (JP), Nagasaki University (JP), Nippon Medical School (JP)
Openalex Percentile: Top 58%
Inflammatory Myopathies and Dermatomyositis
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