Evidence map›Paper›PMID 39986280›Full record

SynthesisCell genomics2025

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

Tomohiro Yata, Go Sato, Kotaro Ogawa, Tatsuhiko Naito, Kyuto Sonehara, Ryunosuke Saiki, Ryuya Edahiro, Shinichi Namba, Mitsuru Watanabe, Yuya Shirai and 40 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Cell genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

50 authors.

Tomohiro YataDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Neurology, Osaka University Graduate School of Medicine, Suita, Japan; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan.
Go SatoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Gastroenterological Surgery, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Tsurumi, Japan.
Kotaro OgawaDepartment of Neurology, Osaka University Graduate School of Medicine, Suita, Japan.
Tatsuhiko NaitoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Tsurumi, Japan.
Kyuto SoneharaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Tsurumi, Japan; Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University, Suita, Japan.
Ryunosuke SaikiDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Ryuya EdahiroDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Tsurumi, Japan; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan.
Shinichi NambaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Tsurumi, Japan; Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Mitsuru WatanabeDepartment of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Yuya ShiraiDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan.
Kenichi YamamotoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory of Children's Health and Genetics, Division of Health Sciences, Osaka University Graduate School of Medicine, Suita, Japan.
Ho NamKoongDepartment of Infectious Diseases, Keio University School of Medicine, Tokyo, Japan.
Tomoko NakanishiLaboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Tsurumi, Japan; Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Research Fellow, Japan Society for the Promotion of Science, Tokyo, Japan.
Yuji YamamotoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan.
Akiko HosokawaDepartment of Neurology, Osaka University Graduate School of Medicine, Suita, Japan; Department of Neurology, Suita Municipal Hospital, Suita, Japan.
Mamoru YamamotoDepartment of Neurology, Faculty of Medicine, University of Toyama, Toyama, Japan.
Japan MS/NMOSD biobank
BioBank Japan Project
Japan COVID-19 Task Force
Eri Oguro-IgashiraDepartment of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory of Immune Regulation, Department of Microbiology and Immunology, Osaka University Graduate School of Medicine, Suita, Japan.
Takuro NiiDepartment of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan; Department of Respiratory Medicine, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan.
Yuichi MaedaIntegrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University, Suita, Japan; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory of Immune Regulation, Department of Microbiology and Immunology, Osaka University Graduate School of Medicine, Suita, Japan.
Kimiko NakajimaDepartment of Dermatology, Kochi Medical School, Kochi University, Nankoku, Japan.
Rika NishikawaDivision of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
Hiroaki TanakaThe First Department of Internal Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
Shingo NakayamadaThe First Department of Internal Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
Koichi MatsudaLaboratory of Clinical Genome Sequencing, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Chikako NishigoriDivision of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
Shigetoshi SanoDepartment of Dermatology, Kochi Medical School, Kochi University, Nankoku, Japan.
Makoto KinoshitaDepartment of Neurology, Osaka University Graduate School of Medicine, Suita, Japan.
Ryuji KoikeHealth Science Research and Development Center, Tokyo Medical and Dental University, Tokyo, Japan.
Akinori KimuraInstitute of Research, Tokyo Medical and Dental University, Tokyo, Japan.
Seiya ImotoDivision of Health Medical Intelligence, Human Genome Center, the Institute of Medical Science, the University of Tokyo, Tokyo, Japan.
Satoru MiyanoM&D Data Science Center, Tokyo Medical and Dental University, Tokyo, Japan.
Koichi FukunagaDivision of Pulmonary Medicine, Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
Masahito MiharaDepartment of Neurology, Kawasaki Medical School, Kurashiki, Japan.
Yuko ShimizuDepartment of Neurology, Tokyo Women's Medical University, Tokyo, Japan; Department of Medical Safety, Tokyo Women's Medical University, Tokyo, Japan.
Izumi KawachiDepartment of Neurology, Brain Research Institute, Niigata University, Niigata, Japan; Medical Education Center, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Katsuichi MiyamotoDepartment of Neurology, Kindai University School of Medicine, Osakasayama, Japan; Department of Neurology, Wakayama Medical University, Wakayama, Japan.
Yoshiya TanakaThe First Department of Internal Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
Atsushi KumanogohIntegrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University, Suita, Japan; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan; Department of Immunopathology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan; Center for Infectious Diseases for Education and Research (CiDER), Osaka University, Suita, Japan.
Masaaki NiinoDepartment of Clinical Research, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.
Yuji NakatsujiDepartment of Neurology, Faculty of Medicine, University of Toyama, Toyama, Japan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan; Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan; Center for Hematology and Regenerative Medicine, Department of Medicine (MedH), Karolinska Institutet, Huddinge, Sweden.
Takuya MatsushitaDepartment of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Neurology, Kochi Medical School, Kochi University, Nankoku, Japan.
Jun-Ichi KiraDepartment of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Neurology, Brain and Nerve Center, Fukuoka Central Hospital, Fukuoka, Japan; Translational Neuroscience Center, Graduate School of Medicine, and School of Pharmacy at Fukuoka, International University of Health and Welfare, Fukuoka, Japan.
Hideki MochizukiDepartment of Neurology, Osaka University Graduate School of Medicine, Suita, Japan.
Noriko IsobeDepartment of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: isobe.noriko.342@m.kyushu-u.ac.jp.
Tatsusada OkunoDepartment of Neurology, Osaka University Graduate School of Medicine, Suita, Japan. Electronic address: okuno@neurol.med.osaka-u.ac.jp.
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Tsurumi, Japan; Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan; Premium Research Institute for Human Metaverse Medicine (WPI-PRIMe), Osaka University, Suita, Japan. Electronic address: yuki-okada@m.u-tokyo.ac.jp.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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

Indexed as

Germ-Line MutationMutationNeuromyelitis OpticaAdultCase-Control StudiesCD4-Positive T-LymphocytesDNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleQuantitative Trait Lociclonal hematopoiesiseQTLgenome-wide association studyhuman leukocyte antigenmosaic chromosomal alterationsneuromyelitis optica spectrum disorderscRNA-seqsingle-cell RNA sequencingsomatic mutation

Identifiers

PMID39986280
PMCPMC11960548

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.