ArticleNature communications2021
Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.
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Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24citing papers in PubMed
4.7field-weighted citation impact, top 4% of its field
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Who cites it
24 citing papers in PubMed, 40 citations in OpenAlex.
- Affinity- and epitope-dependent pathogenicity of GM-CSF autoantibodies in patients with autoimmune pulmonary alveolar proteinosis.Nature communications · 2026Article
- A long-term observational study on autoimmune pulmonary alveolar proteinosis revealed a sustained and generalized decrease in serum autoantibody levels.Orphanet journal of rare diseases · 2026Observational
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Blood DNA virome associates with autoimmune diseases and COVID-19.Nature genetics · 2025Article
- Pulmonary alveolar proteinosis: A case report and literature review.Caspian journal of internal medicine · 2025Article
- A Comprehensive Outlook on Pulmonary Alveolar Proteinosis-A Review.International journal of molecular sciences · 2024Review
- The ouroboros of autoimmunity.Nature immunology · 2024Review
- Anti-cytokine autoantibodies: mechanistic insights and disease associations.Nature reviews. Immunology · 2024Review
- Article
- Genome-wide association study identifies risk loci within the major histocompatibility complex region for Hunner-type interstitial cystitis.Cell reports. Medicine · 2023Article
- Unexpected diffuse lung lesions in a patient with pulmonary alveolar proteinosis: A case report.World journal of clinical cases · 2023Article
- Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis.Journal of clinical immunology · 2023Review
- Reconstruction of the personal information from human genome reads in gut metagenome sequencing data.Nature microbiology · 2023Article
- Seizure-Induced Cardiomyopathy: A Case of Takotsubo Cardiomyopathy Following an Epileptic Event.Cureus · 2023Article
- Genetic Backgrounds Associated With Stent Thrombosis: A Pilot Study From a Percutaneous Coronary Intervention Registry.JACC. Advances · 2023Article
- Prokaryotic and viral genomes recovered from 787 Japanese gut metagenomes revealed microbial features linked to diets, populations, and diseases.Cell genomics · 2022Article
- Cryptococcus gattii Infection as the Major Clinical Manifestation in Patients with Autoantibodies Against Granulocyte-Macrophage Colony-Stimulating Factor.Journal of clinical immunology · 2022Article
- Neutralizing GM-CSF autoantibodies in pulmonary alveolar proteinosis, cryptococcal meningitis and severe nocardiosis.Respiratory research · 2022Article
- A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors.Nature communications · 2022Article
- Autoimmune Pulmonary Alveolar Proteinosis.American journal of respiratory and critical care medicine · 2022Article
Corrections and comments
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Authors and funding
57 authors at 20 institutions in 2 countries.
Saori Sakaue *Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.ORCID 0000-0003-3618-9717
Etsuro Yamaguchi *Division of Respiratory Medicine and Allergology, Department of Internal Medicine, School of Medicine, Aichi Medical University, Aichi, Japan.
Yoshikazu InoueClinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Osaka, Japan.ORCID 0000-0003-3994-874X
Meiko TakahashiCenter for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Jun HirataDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Ken SuzukiDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.ORCID 0000-0003-1065-3593
Satoru ItoDivision of Respiratory Medicine and Allergology, Department of Internal Medicine, School of Medicine, Aichi Medical University, Aichi, Japan.ORCID 0000-0001-7885-4653
Toru AraiClinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Osaka, Japan.
Masaki HiroseClinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Osaka, Japan.
Yoshinori TaninoDepartment of Pulmonary Medicine, Fukushima Medical University, Fukushima, Japan.ORCID 0000-0003-2384-601X
Takefumi NikaidoDepartment of Pulmonary Medicine, Fukushima Medical University, Fukushima, Japan.
Toshio IchiwataDepartment Respiratory Medicine, Tokyo Medical University, Tokyo, Japan.
Shinya OhkouchiOccupational Health, Graduate School of Medicine, Tohoku University, Miyagi, Japan.ORCID 0000-0002-5016-6338
Taizou HiranoRespiratory Medicine, School of Medicine, Tohoku University, Miyagi, Japan.
Toshinori TakadaUonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital, Niigata, Japan.
Satoru MiyawakiDepartment of Neurosurgery, Faculty of Medicine, the University of Tokyo, Tokyo, Japan.ORCID 0000-0001-6369-3391
Shogo DofukuDepartment of Neurosurgery, Faculty of Medicine, the University of Tokyo, Tokyo, Japan.
Yuichi MaedaDepartment of Respiratory Medicine and Clinical 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.
Toshihiro KishikawaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Kotaro OgawaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Tatsuo MasudaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Kenichi YamamotoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Kyuto SoneharaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Ryushi TazawaStudent Support and Health Administration Organization, Tokyo Medical and Dental University, Tokyo, Japan.
Konosuke MorimotoDepartment of Clinical Medicine, Institute of Tropical Medicine, Nagasaki University, Nagasaki, Japan.
Masahiro TakakiDepartment of Infectious Diseases, Nagasaki University Hospital, Nagasaki University, Nagasaki, Japan.
Satoshi KonnoDepartment of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Masaru SuzukiDepartment of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Keisuke TomiiDepartment of Respiratory Medicine, Kobe City Medical Center General Hospital, Kobe, Japan.
Atsushi NakagawaDepartment of Respiratory Medicine, Kobe City Medical Center General Hospital, Kobe, Japan.
Tomohiro HandaDepartment of Advanced Medicine for Respiratory Failure, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kiminobu TanizawaDepartment of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Haruyuki IshiiDepartment of Respiratory Medicine, Kyorin University, Mitaka, Japan.
Manabu IshidaDepartment of Respiratory Medicine, Kyorin University, Mitaka, Japan.
Toshiyuki KatoDepartment of Respiratory Medicine and Allergology, Kariya Toyota General Hospital, Kariya, Japan.
Naoya TakedaDepartment of Respiratory Medicine and Allergology, Kariya Toyota General Hospital, Kariya, Japan.
Koshi YokomuraDepartment of Respiratory Medicine, Respiratory Disease Center, Seirei Mikatahara General Hospital, Hamamatsu, Japan.
Takashi MatsuiDepartment of Respiratory Medicine, Respiratory Disease Center, Seirei Mikatahara General Hospital, Hamamatsu, Japan.
Masaki WatanabeDepartment of Pulmonary Medicine, Graduate School of Medical & Dental Sciences, Kagoshima University, Kagoshima, Japan.
Hiromasa InoueDepartment of Pulmonary Medicine, Graduate School of Medical & Dental Sciences, Kagoshima University, Kagoshima, Japan.ORCID 0000-0001-8080-3812
Kazuyoshi ImaizumiDepartment of Respiratory Medicine, Fujita Health University School of Medicine, Aichi, Japan.
Yasuhiro GotoDepartment of Respiratory Medicine, Fujita Health University School of Medicine, Aichi, Japan.
Hiroshi KidaDepartment of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan.ORCID 0000-0002-9351-7855
Tomoyuki FujisawaSecond Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Takafumi SudaSecond Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Takashi YamadaDepartment of Respiratory Medicine, Shizuoka City Shizuoka Hospital, Shizuoka, Japan.
Yasuomi SatakeDepartment of Respiratory Medicine, Shizuoka City Shizuoka Hospital, Shizuoka, Japan.ORCID 0000-0002-6569-0538
Hidenori IbataDepartment of Respiratory Medicine, National Hospital Organization Mie Chuo Medical Center, Tsu, Japan.
Nobuyuki HizawaDepartment of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Hideki MochizukiDepartment of Neurology, Osaka University Graduate School of Medicine, Suita, Japan.ORCID 0000-0002-0874-7542
Atsushi KumanogohDepartment of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan.ORCID 0000-0003-4749-7117
Fumihiko MatsudaCenter for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Koh NakataDivision of Advanced Medical Development, Niigata University Medical and Dental Hospital, Niigata, Japan.
Tomomitsu HirotaDivision of Molecular Genetics, the Jikei University School of Medicine, Research Center for Medical Science, Tokyo, Japan.
Mayumi TamariDivision of Molecular Genetics, the Jikei University School of Medicine, Research Center for Medical Science, Tokyo, Japan.ORCID 0000-0002-5755-9177
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan. yokada@sg.med.osaka-u.ac.jp.ORCID 0000-0002-0311-8472
The University of Osaka · JPKyoto University · JPNHO Kinki Chuo Chest Medical Center · JPAichi Medical University · JPFujita Health University · JPFukushima Medical University · JPHamamatsu University School of Medicine · JPHokkaido University · JPJikei University School of Medicine · JPKagoshima University · JPKariya Toyota General Hospital · JPKobe City Medical Center General Hospital · JPKyorin University · JPNiigata University Medical and Dental Hospital · JPOsaka International University · JPSeirei Mikatabara General Hospital · JPShizuoka City Hospital · JPThe University of Tokyo · JPTohoku University · JPBroad Institute · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pulmonary alveolar proteinosis (PAP) is a devastating lung disease caused by abnormal surfactant homeostasis, with a prevalence of 6-7 cases per million population worldwide. While mutations causing hereditary PAP have been reported, the genetic basis contributing to autoimmune PAP (aPAP) has not been thoroughly investigated. Here, we conducted a genome-wide association study of aPAP in 198 patients and 395 control participants of Japanese ancestry. The common genetic variant, rs138024423 at 6p21, in the major-histocompatibility-complex (MHC) region was significantly associated with disease risk (Odds ratio [OR] = 5.2; P = 2.4 × 10
Indexed as
Genetic Predisposition to DiseaseAdultAgedAllelesAsian PeopleAutoantibodiesAutoimmune DiseasesCase-Control StudiesChromosomes, Human, Pair 6FemaleGene ExpressionGene FrequencyGenome-Wide Association StudyGranulocyte-Macrophage Colony-Stimulating FactorHLA-DRB1 ChainsHumansAutoantibodiesGranulocyte-Macrophage Colony-Stimulating FactorHLA-DRB1 ChainsProtein IsoformsPulmonary Surfactants
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