ArticleCell genomics2025
Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene.
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Article in Cell genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3citing papers in PubMed
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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.
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.
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Who cites it
3 citing papers in PubMed.
- Regenerative Approaches to Enhance the Skin Microenvironment and Boost Aesthetic Efficacy: A Narrative Review.International journal of molecular sciences · 2026Review
- Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status.Genome medicine · 2026Article
- Three‑dimensional immune cartography uncovers subclinical remodeling in psoriasis.Scientific reports · 2026Article
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Authors and funding
72 authors.
Kyuto SoneharaDepartment of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan. Electronic address: qsonehara@m.u-tokyo.ac.jp.
Rei WatanabeDepartment of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan; Department of Integrative Medicine for Allergic and Immunological Diseases, Osaka University Graduate School of Medicine, Suita, Japan; Department of Dermatology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.
Yutaka MatsumuraDepartment of Dermatology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan; Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
Yuichi MitsuiDepartment of Immunology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Yosuke OgawaDepartment of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan.
Kaori OdomariDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
Saori SakaueDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Center for Data Sciences, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Divisions of Genetics and Rheumatology, Brigham and Women's Hospital and Department of Medicine, Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Shinichi NambaDepartment of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Mariko KomuroDepartment of Immunology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Mio EdamotoDepartment of Immunology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Junya WatanabeDepartment of Immunology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Tomomitsu HirotaDivision of Molecular Genetics, Research Center for Medical Science, The Jikei University School of Medicine, Tokyo, Japan.
Noriko AraseDepartment of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
Yuumi NakamuraDepartment of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan; Cutaneous Immunology, Immunology Frontier Research Center, Osaka University, Suita, Japan.
Kimiko NakajimaDepartment of Dermatology, Kochi Medical School, Kochi University, Nankoku, Japan.
Takashi OkamotoDepartment of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
Rika NishikawaDivision of Dermatology, Department of Internal Related, Faculty of Medicine, Kobe University Graduate School of Medicine, Kobe, 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; Division of Health Science, Osaka University Graduate School of Medicine, Suita, Japan.
Ken SuzukiDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan.
Toshihiro KishikawaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Otorhinolaryngology-Head and Neck Surgery, Osaka University Graduate School of Medicine, Suita, Japan; Department of Head and Neck Surgery, Aichi Cancer Center Hospital, Nagoya, Japan.
Ryuya EdahiroDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, 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; Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, 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, Yokohama, Japan.
Noah SasaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan; Department of Otorhinolaryngology-Head and Neck Surgery, Osaka University Graduate School of Medicine, Suita, Japan.
Yosuke IshitsukaDepartment of Integrative Medicine for Allergic and Immunological Diseases, Osaka University Graduate School of Medicine, Suita, Japan; Department of Dermatology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.
Junichi FurutaDepartment of Dermatology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.
Kayo KunimotoDepartment of Dermatology, Wakayama Medical University Graduate School of Medicine, Wakayama, Japan.
Ikko KajiharaDepartment of Dermatology and Plastic Surgery, Kumamoto University, Kumamoto, Japan.
Satoshi FukushimaDepartment of Dermatology and Plastic Surgery, Kumamoto University, Kumamoto, Japan.
Hideaki MiyachiDepartment of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan.
Hiroyuki MatsueDepartment of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan.
Masahiro KamataDepartment of Dermatology, Teikyo University School of Medicine, Tokyo, Japan.
Mami MomoseDepartment of Dermatology, The Jikei University School of Medicine, Tokyo, Japan.
Ippei MiyagawaThe First Department of Internal Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
Hiroaki TanakaThe First Department of Internal Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
Masanobu UenoThe First Department of Internal Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
Toshinori BitoDivision of Dermatology, Department of Internal Related, Faculty of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.
Hiroshi NagaiDivision of Dermatology, Department of Internal Related, Faculty of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.
Tetsuya IkedaDepartment of Dermatology, Kobe City Hospital Organization Kobe Medical Center West Hospital, Kobe, Japan.
Tatsuya HorikawaDepartment of Dermatology, Nishikobe Medical Center, Kobe, Japan.
Atsuko AdachiDepartment of Dermatology, Hyogo Prefectural Kakogawa Medical Center, Kakogawa, Japan.
Tsukasa MatsubaraMatsubara Mayflower Hospital, Kato, Japan.
Emi NishidaDepartment of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Biobank Japan Project
Koichi MatsudaLaboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, the University of Tokyo, Tokyo, Japan.
Nobuhiro ShojimaDepartment of Diabetes and Metabolic Diseases, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan.
Ikuma NakagawaHokkaido Medical Center for Rheumatic Diseases, Sapporo, Japan.
Yoshihide AsanoDepartment of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan; Department of Dermatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.
Shinichi SatoDepartment of Dermatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.
Shinichi ImafukuDepartment of Dermatology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
Yayoi TadaDepartment of Dermatology, Teikyo University School of Medicine, Tokyo, Japan.
Chikako NishigoriDivision of Dermatology, Department of Internal Related, Faculty of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.
Masatoshi JinninDepartment of Dermatology, Wakayama Medical University Graduate School of Medicine, Wakayama, Japan.
Hironobu IhnDepartment of Dermatology and Plastic Surgery, Kumamoto University, Kumamoto, Japan.
Akihiko AsahinaDepartment of Dermatology, The Jikei University School of Medicine, Tokyo, Japan.
Hidehisa SaekiDepartment of Dermatology, Nippon Medical School, Tokyo, Japan.
Toshimasa YamauchiDepartment of Diabetes and Metabolic Diseases, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan.
Takashi KadowakiDepartment of Diabetes and Metabolic Diseases, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan; Toranomon Hospital, Tokyo, Japan.
Tatsuyoshi KawamuraDepartment of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
Shinji ShimadaDepartment of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
Ichiro KatayamaDepartment of Dermatology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan; Department of Pigmentation Research and Therapeutics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
Koichiro HigasaCenter for Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan; Department of Genome Analysis, Institute of Biomedical Science, Kansai Medical University, Hirakata, Japan.
Emiko NoguchiDepartment of Medical Genetics, University of Tsukuba, Tsukuba, Japan.
Shigetoshi SanoDepartment of Dermatology, Kochi Medical School, Kochi University, Nankoku, Japan.
Yoshiya TanakaThe First Department of Internal Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
Fumihiko MatsudaCenter for Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Atsushi KumanogohDepartment of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan; Department of Immunopathology, Immunology Frontier Research Center, Osaka University, Suita, Japan.
Mayumi TamariDivision of Molecular Genetics, Research Center for Medical Science, The Jikei University School of Medicine, Tokyo, Japan.
Takashi SatohDepartment of Immunology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Manabu FujimotoDepartment of Dermatology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan; Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
Akimichi MoritaDepartment of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Yukinori OkadaDepartment of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, 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.
Abstract
Psoriasis vulgaris (PsV) is an immune-mediated inflammatory skin disorder with complex genetic architecture. Most genome-wide association studies (GWASs) of PsV have been limited to analyzing common single-nucleotide variants in Europeans, lacking diversity in the variant spectrum and ancestral background. To investigate the contribution of rare variants (RVs) and structural variants (SVs), we perform a whole-genome sequencing study involving 1,415 PsV cases and 3,968 controls in Japanese. A GWAS signal at IFNLR1 is fine-mapped to a 3.3-kb deletion SV disrupting an epithelium-specific putative enhancer, which is validated by PacBio long-read sequencing. Gene-based RV analyses identify two susceptibility genes: IFIH1 (p = 9.8 × 10
Indexed as
Genetic Predisposition to DiseasePsoriasisWhole Genome SequencingAnimalsDisease Models, AnimalFemaleGenome-Wide Association StudyHumansInterferon-Induced Helicase, IFIH1MaleMiceMice, KnockoutPolymorphism, Single NucleotideInterferon-Induced Helicase, IFIH1gene-based analysisgenome-wide association studyknockout mouse modelpsoriasis vulgarisrare variantsingle-cell RNA-seqspatial transcriptome analysisstructural variantwhole-genome sequencing
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