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Tytuł:
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Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.
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Autorzy:
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Sakaue S; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Allergy and Rheumatology, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan.; Center for Data Sciences, Harvard Medical School, Boston, USA.; Divisions of Genetics and Rheumatology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, USA.
Yamaguchi E; Division of Respiratory Medicine and Allergology, Department of Internal Medicine, School of Medicine, Aichi Medical University, Aichi, Japan.
Inoue Y; Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Osaka, Japan.
Takahashi M; Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Hirata J; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Pharmaceutical Discovery Research Laboratories, TEIJIN PHARMA LIMITED, Hino, Japan.
Suzuki K; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Ito S; Division of Respiratory Medicine and Allergology, Department of Internal Medicine, School of Medicine, Aichi Medical University, Aichi, Japan.
Arai T; Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Osaka, Japan.
Hirose M; Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Osaka, Japan.
Tanino Y; Department of Pulmonary Medicine, Fukushima Medical University, Fukushima, Japan.
Nikaido T; Department of Pulmonary Medicine, Fukushima Medical University, Fukushima, Japan.
Ichiwata T; Department Respiratory Medicine, Tokyo Medical University, Tokyo, Japan.
Ohkouchi S; Occupational Health, Graduate School of Medicine, Tohoku University, Miyagi, Japan.
Hirano T; Respiratory Medicine, School of Medicine, Tohoku University, Miyagi, Japan.
Takada T; Uonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital, Niigata, Japan.
Miyawaki S; Department of Neurosurgery, Faculty of Medicine, the University of Tokyo, Tokyo, Japan.
Dofuku S; Department of Neurosurgery, Faculty of Medicine, the University of Tokyo, Tokyo, Japan.
Maeda Y; 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.
Nii T; 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.
Kishikawa T; Department 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.
Ogawa K; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Neurology, Osaka University Graduate School of Medicine, Suita, Japan.
Masuda T; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Obstetrics and Gynecology, Osaka University Graduate School of Medicine, Suita, Japan.
Yamamoto K; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
Sonehara K; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Tazawa R; Student Support and Health Administration Organization, Tokyo Medical and Dental University, Tokyo, Japan.
Morimoto K; Department of Clinical Medicine, Institute of Tropical Medicine, Nagasaki University, Nagasaki, Japan.
Takaki M; Department of Infectious Diseases, Nagasaki University Hospital, Nagasaki University, Nagasaki, Japan.
Konno S; Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Suzuki M; Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Tomii K; Department of Respiratory Medicine, Kobe City Medical Center General Hospital, Kobe, Japan.
Nakagawa A; Department of Respiratory Medicine, Kobe City Medical Center General Hospital, Kobe, Japan.
Handa T; Department of Advanced Medicine for Respiratory Failure, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Tanizawa K; Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Ishii H; Department of Respiratory Medicine, Kyorin University, Mitaka, Japan.
Ishida M; Department of Respiratory Medicine, Kyorin University, Mitaka, Japan.
Kato T; Department of Respiratory Medicine and Allergology, Kariya Toyota General Hospital, Kariya, Japan.
Takeda N; Department of Respiratory Medicine and Allergology, Kariya Toyota General Hospital, Kariya, Japan.
Yokomura K; Department of Respiratory Medicine, Respiratory Disease Center, Seirei Mikatahara General Hospital, Hamamatsu, Japan.
Matsui T; Department of Respiratory Medicine, Respiratory Disease Center, Seirei Mikatahara General Hospital, Hamamatsu, Japan.
Watanabe M; Department of Pulmonary Medicine, Graduate School of Medical & Dental Sciences, Kagoshima University, Kagoshima, Japan.
Inoue H; Department of Pulmonary Medicine, Graduate School of Medical & Dental Sciences, Kagoshima University, Kagoshima, Japan.
Imaizumi K; Department of Respiratory Medicine, Fujita Health University School of Medicine, Aichi, Japan.
Goto Y; Department of Respiratory Medicine, Fujita Health University School of Medicine, Aichi, Japan.
Kida H; Department 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.
Fujisawa T; Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Suda T; Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Yamada T; Department of Respiratory Medicine, Shizuoka City Shizuoka Hospital, Shizuoka, Japan.
Satake Y; Department of Respiratory Medicine, Shizuoka City Shizuoka Hospital, Shizuoka, Japan.
Ibata H; Department of Respiratory Medicine, National Hospital Organization Mie Chuo Medical Center, Tsu, Japan.
Hizawa N; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Mochizuki H; Department of Neurology, Osaka University Graduate School of Medicine, Suita, Japan.
Kumanogoh A; Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Suita, Japan.; Laboratory of Immunopathology, World Premier International Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan.; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita, Japan.
Matsuda F; Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Nakata K; Division of Advanced Medical Development, Niigata University Medical and Dental Hospital, Niigata, Japan.
Hirota T; Division of Molecular Genetics, the Jikei University School of Medicine, Research Center for Medical Science, Tokyo, Japan.
Tamari M; Division of Molecular Genetics, the Jikei University School of Medicine, Research Center for Medical Science, Tokyo, Japan.
Okada Y; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan. .; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita, Japan. .; Laboratory of Statistical Immunology, World Premier International Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan. .
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Źródło:
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Nature communications [Nat Commun] 2021 Feb 15; Vol. 12 (1), pp. 1032. Date of Electronic Publication: 2021 Feb 15.
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Typ publikacji:
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Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Original Publication: [London] : Nature Pub. Group
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MeSH Terms:
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Genetic Predisposition to Disease*
Autoantibodies/*genetics
Autoimmune Diseases/*genetics
Granulocyte-Macrophage Colony-Stimulating Factor/*genetics
HLA-DRB1 Chains/*genetics
Pulmonary Alveolar Proteinosis/*genetics
Adult ; Aged ; Alleles ; Asian People ; Autoantibodies/biosynthesis ; Autoimmune Diseases/ethnology ; Autoimmune Diseases/immunology ; Autoimmune Diseases/pathology ; Case-Control Studies ; Chromosomes, Human, Pair 6 ; Female ; Gene Expression ; Gene Frequency ; Genome-Wide Association Study ; Granulocyte-Macrophage Colony-Stimulating Factor/antagonists & inhibitors ; Granulocyte-Macrophage Colony-Stimulating Factor/immunology ; HLA-DRB1 Chains/immunology ; Humans ; Japan ; Male ; Middle Aged ; Odds Ratio ; Protein Isoforms/genetics ; Pulmonary Alveolar Proteinosis/ethnology ; Pulmonary Alveolar Proteinosis/immunology ; Pulmonary Alveolar Proteinosis/pathology ; Pulmonary Surfactants/immunology ; Pulmonary Surfactants/metabolism ; Risk
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References:
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Substance Nomenclature:
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0 (Autoantibodies)
0 (HLA-DRB1 Chains)
0 (Protein Isoforms)
0 (Pulmonary Surfactants)
83869-56-1 (Granulocyte-Macrophage Colony-Stimulating Factor)
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Entry Date(s):
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Date Created: 20210216 Date Completed: 20210223 Latest Revision: 20240330
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Update Code:
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20240330
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PubMed Central ID:
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PMC7884840
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DOI:
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10.1038/s41467-021-21011-y
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PMID:
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33589587
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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 -12 ). HLA fine-mapping revealed that the common HLA class II allele, HLA-DRB1*08:03, strongly drove this signal (OR = 4.8; P = 4.8 × 10 -12 ), followed by an additional independent risk allele at HLA-DPβ1 amino acid position 8 (OR = 0.28; P = 3.4 × 10 -7 ). HLA-DRB1*08:03 was also associated with an increased level of anti-GM-CSF antibody, a key driver of the disease (β = 0.32; P = 0.035). Our study demonstrated a heritable component of aPAP, suggesting an underlying genetic predisposition toward an abnormal antibody production.
