SynthesisNature communications2024
GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region.
Erratum issuedOpen access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
5.9field-weighted citation impact, top 4% of its field
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Sex-specific autosomal susceptibility loci in systemic sclerosis: a genome-wide association study.The Lancet. Rheumatology · 2026Pooled it
- Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.Annals of the rheumatic diseases · 2026Article
- Association ofInternational journal of molecular sciences · 2026Article
- Genetic and Genomic Analysis of Systemic Sclerosis: A Narrative Review of the Recent Advancement.JMA journal · 2026Review
- Article
- Identification of rs28362336 as a risk SNP for generalized myasthenia gravis and its impact on HCG27 regulation.PloS one · 2026Article
- The Ubiquitin-Proteasome System in Asthma: Mechanisms and Therapeutic Possibilities.Clinical reviews in allergy & immunology · 2025Review
- Pathogenesis of systemic sclerosis: an integrative review of recent advances.Journal of rheumatic diseases · 2025Review
- Multi-scalar data integration decoding risk genes for chronic kidney disease.BMC nephrology · 2024Article
- Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing.Science advances · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
72 authors at 20 institutions in 2 countries.
Yuki IshikawaRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan.ORCID http://orcid.org/0000-0002-6514-8239
Nao TanakaRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan.ORCID http://orcid.org/0000-0002-2085-4682
Yoshihide AsanoDepartment of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Masanari KoderaDepartment of Dermatology, Chukyo Hospital, Japan Community Health Care Organization, Nagoya, Japan.
Yuichiro ShiraiDepartment of Allergy and Rheumatology, Nippon Medical School Graduate School of Medicine, Tokyo, Japan.
Mitsuteru AkahoshiDepartment of Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan.ORCID http://orcid.org/0000-0002-3556-4709
Minoru HasegawaFaculty of Medical Sciences, Department of Dermatology, University of Fukui, Fukui, Japan.
Takashi MatsushitaDepartment of Dermatology, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.ORCID http://orcid.org/0000-0002-1617-086X
Kazuyoshi SaitoThe First Department of Internal Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.
Sei-Ichiro MotegiDepartment of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Hajime YoshifujiDepartment of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Ayumi YoshizakiDepartment of Dermatology, The University of Tokyo, Tokyo, Japan.
Tomohiro KohmotoAichi Cancer Center Research Institute, Division of Molecular Genetics, Nagoya, Japan.
Kae TakagiTokyo Women's Medical University, Adachi Medical Center, Tokyo, Japan.
Akira OkaDepartment of Molecular Life Sciences, Division of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara, Japan.ORCID http://orcid.org/0000-0002-0903-3218
Miho KandaDepartment of Dermatology, Chukyo Hospital, Japan Community Health Care Organization, Nagoya, Japan.
Yoshihito TanakaDepartment of Dermatology, Chukyo Hospital, Japan Community Health Care Organization, Nagoya, Japan.
Yumi ItoDepartment of Dermatology, Chukyo Hospital, Japan Community Health Care Organization, Nagoya, Japan.
Kazuhisa NakanoThe First Department of Internal Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.
Hiroshi KasamatsuFaculty of Medical Sciences, Department of Dermatology, University of Fukui, Fukui, Japan.
Akira UtsunomiyaFaculty of Medical Sciences, Department of Dermatology, University of Fukui, Fukui, Japan.
Akiko SekiguchiDepartment of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Hiroaki NiiroDepartment of Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan.
Masatoshi JinninDepartment of Dermatology, Wakayama Medical University Graduate School of Medicine, Wakayama, Japan.
Katsunari MakinoDepartment of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Takamitsu MakinoDepartment of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Hironobu IhnDepartment of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Motohisa YamamotoDepartment of Rheumatology and Allergy, IMSUT Hospital, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0003-2742-2484
Chisako SuzukiDepartment of Rheumatology and Clinical Immunology, Sapporo Medical University School of Medicine, Sapporo, Japan.
Hiroki TakahashiDepartment of Rheumatology and Clinical Immunology, Sapporo Medical University School of Medicine, Sapporo, Japan.
Emi NishidaDepartment of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Akimichi MoritaDepartment of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.ORCID http://orcid.org/0000-0001-8372-3754
Toshiyuki YamamotoDepartment of Dermatology, Fukushima Medical University, School of Medicine, Fukushima, Japan.ORCID http://orcid.org/0000-0002-8390-2573
Manabu FujimotoDepartment of Dermatology, Graduate School of Medicine, Osaka University, Osaka, Japan.ORCID http://orcid.org/0000-0002-3062-4872
Yuya KondoDepartment of Rheumatology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.ORCID http://orcid.org/0000-0002-1708-4402
Daisuke GotoDepartment of Rheumatology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.
Takayuki SumidaDepartment of Rheumatology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.
Naho AyuzawaDepartment of Clinical Immunology, National Hospital Organization, Utano National Hospital, Kyoto, Japan.
Hidetoshi YanagidaDepartment of Clinical Immunology, National Hospital Organization, Utano National Hospital, Kyoto, Japan.
Tetsuya HoritaFaculty of Medicine and Graduate School of Medicine, Department of Rheumatology, Endocrinology and Nephrology, Hokkaido University, Sapporo, Japan.ORCID http://orcid.org/0000-0003-2332-3841
Tatsuya AtsumiFaculty of Medicine and Graduate School of Medicine, Department of Rheumatology, Endocrinology and Nephrology, Hokkaido University, Sapporo, Japan.ORCID http://orcid.org/0000-0001-5657-962X
Hirahito EndoOmori Medical Center, Toho University, Rheumatic Disease Center, Tokyo, Japan.
Yoshihito ShimaDepartment of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Osaka, Japan.ORCID http://orcid.org/0000-0002-2523-2938
Atsushi KumanogohDepartment of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Osaka, Japan.ORCID http://orcid.org/0000-0003-4749-7117
Jun HirataImmunology Frontier Center, Osaka University, Statistical Immunology, Osaka, Japan.
Nao OtomoRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan.
Hiroyuki SuetsuguRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan.
Yoshinao KoikeRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan.ORCID http://orcid.org/0000-0002-5431-5572
Kohei TomizukaRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan.
Soichiro YoshinoRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan.
Xiaoxi LiuRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan.
Shuji ItoRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan.
Keiko HikinoRIKEN Center for Integrative Medical Sciences, The Laboratory for Pharmacogenomics, Yokohama, Japan.ORCID http://orcid.org/0000-0002-4852-2401
Akari SuzukiRIKEN Center for Integrative Medical Sciences, The Laboratory for Autoimmune Diseases, Yokohama, Japan.
Yukihide MomozawaRIKEN Center for Integrative Medical Sciences, The Laboratory for Genotyping Development, Yokohama, Japan.ORCID http://orcid.org/0000-0001-5638-3504
Shiro IkegawaRIKEN Center for Integrative Medical Sciences, The Laboratory for Bone and Joint Diseases, Yokohama, Japan.
Yoshiya TanakaThe First Department of Internal Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.ORCID http://orcid.org/0000-0002-0807-7139
Osamu IshikawaDepartment of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Kazuhiko TakeharaDepartment of Dermatology, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.
Takeshi ToriiTorii Clinic, Maizuru, Japan.
Shinichi SatoDepartment of Dermatology, The University of Tokyo, Tokyo, Japan.
Yukinori OkadaImmunology Frontier Center, Osaka University, Statistical Immunology, Osaka, Japan.ORCID http://orcid.org/0000-0002-0311-8472
Tsuneyo MimoriDepartment of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Fumihiko MatsudaGraduate School of Medicine, Kyoto University, Center for Genomic Medicine, Kyoto, Japan.
Koichi MatsudaInstitute of Medical Science, The University of Tokyo, Laboratory of Genome Technology, Human Genome Center, Tokyo, Japan.ORCID http://orcid.org/0000-0001-7292-2686
Tiffany AmariutaCenter for Data Sciences, Harvard Medical School, Boston, MA, USA.
Issei ImotoAichi Cancer Center Research Institute, Nagoya, Japan.
Keitaro MatsuoAichi Cancer Center Research Institute, Division of Cancer Epidemiology and Prevention, Nagoya, Japan.ORCID http://orcid.org/0000-0003-1761-6314
Masataka KuwanaDepartment of Allergy and Rheumatology, Nippon Medical School Graduate School of Medicine, Tokyo, Japan.
Yasushi KawaguchiTokyo Women's Medical University, Division of Rheumatology, Department of Internal Medicine, Tokyo, Japan.
Koichiro OhmuraDepartment of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Chikashi TeraoRIKEN Center for Integrative Medical Sciences, The Laboratory for Statistical and Translational Genetics, Yokohama, Japan. chikashi.terao@riken.jp.ORCID http://orcid.org/0000-0002-6452-4095
RIKEN Center for Integrative Medical Sciences · JPThe University of Osaka · JPKyoto University · JPUniversity of Occupational and Environmental Health Japan · JPAichi Cancer Center · JPChukyo Hospital · JPGunma University · JPKumamoto University · JPThe University of Tokyo · JPUniversity of Fukui · JPUniversity of Tsukuba · JPHokkaido University · JPKanazawa University · JPKyushu University · JPNagoya City University · JPNational Hospital Organization · JPNippon Medical School · JPSapporo Medical University · JPBroad Institute · USFukushima Medical University · JP
Funding
Japan Agency for Medical Research and Development (AMED) JP21ck0106642Japan Agency for Medical Research and Development (AMED) JP21ek0109555Japan Agency for Medical Research and Development (AMED) JP21tm0424220Japan Agency for Medical Research and Development (AMED) JP23ek0410114Japan Agency for Medical Research and Development (AMED) JP23tm0424225MEXT | Japan Society for the Promotion of Science (JSPS) JP20H00462
Abstract
Here we report the largest Asian genome-wide association study (GWAS) for systemic sclerosis performed to date, based on data from Japanese subjects and comprising of 1428 cases and 112,599 controls. The lead SNP is in the FCGR/FCRL region, which shows a penetrating association in the Asian population, while a complete linkage disequilibrium SNP, rs10917688, is found in a cis-regulatory element for IRF8. IRF8 is also a significant locus in European GWAS for systemic sclerosis, but rs10917688 only shows an association in the presence of the risk allele of IRF8 in the Japanese population. Further analysis shows that rs10917688 is marked with H3K4me1 in primary B cells. A meta-analysis with a European GWAS detects 30 additional significant loci. Polygenic risk scores constructed with the effect sizes of the meta-analysis suggest the potential portability of genetic associations beyond populations. Prioritizing the top 5% of SNPs of IRF8 binding sites in B cells improves the fitting of the polygenic risk scores, underscoring the roles of B cells and IRF8 in the development of systemic sclerosis. The results also suggest that systemic sclerosis shares a common genetic architecture across populations.
Indexed as
Genetic Predisposition to DiseaseScleroderma, SystemicGenetic LociGenetic Risk ScoreGenome-Wide Association StudyHumansInterferon Regulatory FactorsPolymorphism, Single NucleotideReceptors, IgGInterferon Regulatory FactorsReceptors, IgG
Identifiers
What Socratic holds
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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.