Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder

Yata, Tomohiro; Sato, Go; Ogawa, Kotaro; Naito, Tatsuhiko; Sonehara, Kyuto; Saiki, Ryunosuke; Edahiro, Ryuya; Namba, Shinichi; Watanabe, Mitsuru; Shirai, Yuya; Yamamoto, Kenichi; NamKoong, Ho; Nakanishi, Tomoko; Yamamoto, Yuji; Hosokawa, Akiko; Yamamoto, Mamoru; Oguro-Igashira, Eri

doi:https://doi.org/10.1016/j.xgen.2025.100776

Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder

Yata, Tomohiro; Sato, Go; Ogawa, Kotaro et al.

Cell Genomics, 2025, 5(3), 100776

アクセス数:13件（2025-04-26 09:54 集計）

固定URL: https://hdl.handle.net/11094/100999

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タイトル	Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder
著者	著者名 Yata, Tomohiro
	著者名 Sato, Go
	NRID 1000080870500 1000080870500 researchmap permalink jihdiegisojosugudc jihdiegisojosugudc Scopus Author ID 57200553653 57200553653 著者名 Ogawa, Kotaro
	著者名 Naito, Tatsuhiko
	NRID 1000060975358 1000060975358 著者名 Sonehara, Kyuto
	NRID 1000020982515 1000020982515 著者名 Saiki, Ryunosuke
	researchmap permalink ryuya_edahiro_88 ryuya_edahiro_88 著者名 Edahiro, Ryuya
	著者名 Namba, Shinichi
	NRID 1000030748009 1000030748009 著者名 Watanabe, Mitsuru
	NRID 1000050899945 1000050899945 著者名 Shirai, Yuya
	NRID 1000090875585 1000090875585 ORCID 0000-0001-9594-7050 0000-0001-9594-7050 researchmap permalink KenichiYamamotoPed KenichiYamamotoPed Scopus Author ID 57204724143 57204724143 著者名 Yamamoto, Kenichi
	NRID 1000050594644 1000050594644 著者名 NamKoong, Ho
	NRID 1000070975359 1000070975359 著者名 Nakanishi, Tomoko
	著者名 Yamamoto, Yuji
	著者名 Hosokawa, Akiko
	著者名 Yamamoto, Mamoru
	NRID 1000051004139 1000051004139 researchmap permalink 51004139 51004139 著者名 Oguro-Igashira, Eri
キーワード等	clonal hematopoiesis
	eQTL
	genome-wide association study
	human leukocyte antigen
	mosaic chromosomal alterations
	neuromyelitis optica spectrum disorder
	scRNA-seq
	single-cell RNA sequencing
	somatic mutation
内容	All authors are listed on pp1-2 of the article.
内容	Yata T., Sato G., Ogawa K., et al. Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder. Cell Genomics 5, 100776 (2025); https://doi.org/10.1016/j.xgen.2025.100776.
抄録	Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease characterized by optic neuritis and transverse myelitis, with an unclear genetic background. A genome-wide meta-analysis of NMOSD in Japanese individuals (240 patients and 50,578 controls) identified significant associations with the major histocompatibility complex region and a common variant close to CCR6 (rs12193698; p = 1.8 × 10−8, odds ratio [OR] = 1.73). In single-cell RNA sequencing (scRNA-seq) analysis (25 patients and 101 controls), the CCR6 risk variant showed disease-specific expression quantitative trait loci effects in CD4+ T (CD4T) cell subsets. Furthermore, we detected somatic mosaic chromosomal alterations (mCAs) in various autoimmune diseases and found that mCAs increase the risk of NMOSD (OR = 3.37 for copy number alteration). In scRNA-seq data, CD4T cells with 21q loss, a recurrently observed somatic event in NMOSD, showed dysregulation of type I interferon-related genes. Our integrated study identified novel germline and somatic mutations associated with NMOSD pathogenesis.
出版者	Cell Press
収録物名	Cell Genomics
巻(号)	5(3)
ページ	100776
刊行年月	2025-03-12
言語	英語
ハンドルURL	https://hdl.handle.net/11094/100999
eISSN	2666979X
関連情報 (isIdenticalTo)	DOI (出版社版) https://doi.org/10.1016/j.xgen.2025.100776
アクセス権	open access
権利情報	This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
出版タイプ	Version of Record
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCTERMS.bibliographicCitation	Cell Genomics. 2025, 5(3), p. 100776
DC.title	Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder
DC.creator	Yata, Tomohiro
	Sato, Go
	Ogawa, Kotaro
	Naito, Tatsuhiko
	Sonehara, Kyuto
	Saiki, Ryunosuke
	Edahiro, Ryuya
	Namba, Shinichi
	Watanabe, Mitsuru
	Shirai, Yuya
	Yamamoto, Kenichi
	NamKoong, Ho
	Nakanishi, Tomoko
	Yamamoto, Yuji
	Hosokawa, Akiko
	Yamamoto, Mamoru
	Oguro-Igashira, Eri
DC.publisher	Cell Press
DC.language' scheme='DCTERMS.RFC1766	英語
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2025-03-12
DC.identifier	https://doi.org/10.1016/j.xgen.2025.100776
DC.subject	clonal hematopoiesis
	eQTL
	genome-wide association study
	human leukocyte antigen
	mosaic chromosomal alterations
	neuromyelitis optica spectrum disorder
	scRNA-seq
	single-cell RNA sequencing
	somatic mutation
DC.description	All authors are listed on pp1-2 of the article.
DC.description	Yata T., Sato G., Ogawa K., et al. Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder. Cell Genomics 5, 100776 (2025); https://doi.org/10.1016/j.xgen.2025.100776.
DCTERMS.abstract	Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease characterized by optic neuritis and transverse myelitis, with an unclear genetic background. A genome-wide meta-analysis of NMOSD in Japanese individuals (240 patients and 50,578 controls) identified significant associations with the major histocompatibility complex region and a common variant close to CCR6 (rs12193698; p = 1.8 × 10−8, odds ratio [OR] = 1.73). In single-cell RNA sequencing (scRNA-seq) analysis (25 patients and 101 controls), the CCR6 risk variant showed disease-specific expression quantitative trait loci effects in CD4+ T (CD4T) cell subsets. Furthermore, we detected somatic mosaic chromosomal alterations (mCAs) in various autoimmune diseases and found that mCAs increase the risk of NMOSD (OR = 3.37 for copy number alteration). In scRNA-seq data, CD4T cells with 21q loss, a recurrently observed somatic event in NMOSD, showed dysregulation of type I interferon-related genes. Our integrated study identified novel germline and somatic mutations associated with NMOSD pathogenesis.
DC.rights	This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
DC.format	100999
citation_title	Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder
citation_author	Yata, Tomohiro
	Sato, Go
	Ogawa, Kotaro
	Naito, Tatsuhiko
	Sonehara, Kyuto
	Saiki, Ryunosuke
	Edahiro, Ryuya
	Namba, Shinichi
	Watanabe, Mitsuru
	Shirai, Yuya
	Yamamoto, Kenichi
	NamKoong, Ho
	Nakanishi, Tomoko
	Yamamoto, Yuji
	Hosokawa, Akiko
	Yamamoto, Mamoru
	Oguro-Igashira, Eri
citation_publisher	Cell Press
citation_language	英語
citation_date	2025-03-12
citation_journal_title	Cell Genomics
citation_volume	5
citation_issue	3
citation_firstpage	100776
citation_doi	https://doi.org/10.1016/j.xgen.2025.100776
citation_public_url	https://hdl.handle.net/11094/100999

Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder

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