ArticleNature genetics2015
Rare A2ML1 variants confer susceptibility to otitis media.
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Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29citing papers in PubMed
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Who cites it
29 citing papers in PubMed, 44 citations in OpenAlex.
- Multi-omics integration and machine learning uncover molecular basal-like subtype of pancreatic cancer and implicate A2ML1 in promoting tumor epithelial-mesenchymal transition.Journal of translational medicine · 2025Article
- A NovelInternational journal of molecular sciences · 2025Article
- The A2ml1-Knockout mouse as an animal model for non-syndromic otitis media.International journal of pediatric otorhinolaryngology · 2024Article
- Newborn Hearing Screening and Beyond: A Continuing Journey in the Philippines.Acta medica Philippina · 2023Article
- A2ML1 Inhibits Esophageal Squamous Cell Carcinoma Progression and Serves as a Novel Prognostic Biomarker.Canadian journal of gastroenterology & hepatology · 2023Article
- Audiologic Measures in an Indigenous Community withGenetic testing and molecular biomarkers · 2023Article
- Cryo-EM structures of human A2ML1 elucidate the protease-inhibitory mechanism of the A2M family.Nature communications · 2022Article
- Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2021Article
- Otitis media susceptibility and shifts in the head and neck microbiome due toJournal of medical genetics · 2021Article
- The transcriptional landscape of the cultured murine middle ear epithelium in vitro.Biology open · 2021Article
- αThe Journal of biological chemistry · 2020Article
- Multi-omic studies on missense PLG variants in families with otitis media.Scientific reports · 2020Article
- Upper Respiratory Tract Microbiome and Otitis Media Intertalk: Lessons from the Literature.Journal of clinical medicine · 2020Review
- Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology.Frontiers in genetics · 2020Review
- A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.Human mutation · 2019Article
- A model of chronic, transmissible Otitis Media in mice.PLoS pathogens · 2019Article
- Current Understanding of Host Genetics of Otitis Media.Frontiers in genetics · 2019Review
- Genetic counseling in an indigenous Filipino community with a high prevalence of A2ML1-related otitis media.Journal of community genetics · 2019Article
- Recent Perspectives on Gene-Microbe Interactions Determining Predisposition to Otitis Media.Frontiers in genetics · 2019Review
- Identification of Novel Genes and Biological Pathways That Overlap in Infectious and Nonallergic Diseases of the Upper and Lower Airways Using Network Analyses.Frontiers in genetics · 2019Article
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Authors and funding
30 authors at 9 institutions in 2 countries.
Regie Lyn P Santos-CortezCenter for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Charlotte M Chiong1] Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines. [2] Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
Ma Rina T Reyes-Quintos1] Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines. [2] Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
Ma Leah C TantocoPhilippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.
Xin WangCenter for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Anushree AcharyaCenter for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Izoduwa AbbeCenter for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Arnaud P GieseDepartment of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
Joshua D SmithDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
E Kaitlynn Allen1] Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, Virginia, USA. [2] Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, Virginia, USA.
Biao LiCenter for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Eva Maria Cutiongco-de la Paz1] Institute of Human Genetics, University of the Philippines Manila-National Institutes of Health, Manila, Philippines. [2] Department of Pediatrics, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
Marieflor Cristy GarciaDepartment of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
Erasmo Gonzalo D V Llanes1] Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines. [2] Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
Patrick John LabraDepartment of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
Teresa Luisa I Gloria-Cruz1] Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines. [2] Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
Abner L Chan1] Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines. [2] Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
Gao T WangCenter for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Kathleen A DalyDepartment of Otolaryngology, Head and Neck Surgery, University of Minnesota, Minneapolis, Minnesota, USA.
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Michael J BamshadDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Janak A PatelDivision of Pediatric Infectious Disease and Immunology, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA.
Saima RiazuddinDepartment of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
Michele M Sale1] Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, Virginia, USA. [2] Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, Virginia, USA. [3] Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA.
University of Washington Center for Mendelian Genomics
Tasnee ChonmaitreeDivision of Pediatric Infectious Disease and Immunology, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA.
Zubair M AhmedDepartment of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
Generoso T Abes1] Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines. [2] Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
Suzanne M LealCenter for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Baylor College of Medicine · USPhilippine General Hospital · PHUniversity of the Philippines Manila · PHUniversity of Washington · USUniversity of Maryland, Baltimore · USBaylor Genetics · USThe University of Texas Medical Branch at Galveston · USUniversity of Virginia · USUniversity of Minnesota · US
Funding
UW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MIdentification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7MUsher Proteins in the Inner Ear Structure and FunctionR01DC012564 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI Zubair M. Ahmed, Gregory I Frolenkov · 2013 to 2026
$7.0MPathogenesis of Virus-Induced Acute Otitis MediaR01DC005841 · NIDCD · UNIVERSITY OF TEXAS MEDICAL BR GALVESTON · PI CHONMAITREE, TASNEE · 2002 to 2013
$5.9MGENETIC EPIDEMIOLOGY OF CHRONIC/RECURRENT OTITIS MEDIAR01DC003166 · NIDCD · UNIVERSITY OF MINNESOTA TWIN CITIES · PI DALY, KATHLEEN ANN · 2000 to 2010
$4.5MGenetic contributors to diabetes and dyslipidemia in African AmericansR01DK084350 · NIDDK · UNIVERSITY OF VIRGINIA · PI SALE, MICHELE M · 2009 to 2010
$4.4MLocalization of Nonsyndromic Hearing Impairment GenesR01DC011651 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEAL, SUZANNE M · 2011 to 2020
$2.9MIdentifying Genes for Non-syndromic Recessive Deafness-A Collaborative StudyR01DC011803 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI RIAZUDDIN, SAIMA · 2012 to 2016
$1.6MNHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NIDCD NIH HHS R01 DC003166NIDCD NIH HHS R01 DC003594NIDCD NIH HHS R01 DC005841NIDCD NIH HHS R01 DC011651NIDCD NIH HHS R01 DC011803NIDCD NIH HHS R01 DC012564NIDDK NIH HHS R01 DK084350
Abstract
A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispanic-American children but is absent in non-otitis-prone children and >62,000 next-generation sequences. We identified seven additional A2ML1 variants in six otitis-prone children. Collectively, our studies support a role for A2ML1 in the pathophysiology of otitis media.
Indexed as
Gene Duplicationalpha-MacroglobulinsAnimalsBase SequenceChildCochleaExomeFamily HealthFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHaplotypesHumansMaleMice, Inbred C57BLA2ML1 protein, humanalpha-Macroglobulins
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