ArticleJournal of medical genetics2021
Otitis media susceptibility and shifts in the head and neck microbiome due to
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Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15citing papers in PubMed
2.4field-weighted citation impact, top 9% of its field
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Rare and low-frequency variants in families with otitis media.Journal of molecular medicine (Berlin, Germany) · 2025Article
- A NovelInternational journal of molecular sciences · 2025Article
- Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family.Molecular genetics & genomic medicine · 2024Article
- Exploring the Link Between Oral Health Factors and Hearing Impairments in Children: A Cross-Sectional Study.Cureus · 2024Article
- The A2ml1-Knockout mouse as an animal model for non-syndromic otitis media.International journal of pediatric otorhinolaryngology · 2024Article
- Otitis Media in Children with Down Syndrome Is Associated with Shifts in the Nasopharyngeal and Middle Ear Microbiotas.Genetic testing and molecular biomarkers · 2023Article
- Changes in gut microbiome correlate with intestinal barrier dysfunction and inflammation following a 3-day ethanol exposure in aged mice.Alcohol (Fayetteville, N.Y.) · 2023Article
- Audiologic Measures in an Indigenous Community withGenetic testing and molecular biomarkers · 2023Article
- A review of the auditory-gut-brain axis.Frontiers in neuroscience · 2023Review
- Effect of Antimicrobial Prophylaxis onComparative medicine · 2022Article
- Article
- Microbiota Associated With Cholesteatoma Tissue in Chronic Suppurative Otitis Media.Frontiers in cellular and infection microbiology · 2022Article
- Developing a pyroptosis-related gene signature to better predict the prognosis and immune status of patients with head and neck squamous cell carcinoma.Frontiers in genetics · 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
- TheFrontiers in cellular and infection microbiology · 2021Article
Corrections and comments
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Authors and funding
44 authors at 14 institutions in 4 countries.
Daniel N FrankDepartment of Medicine, Division of Infectious Diseases, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Arnaud P J GieseDepartment of Otorhinolaryngology, Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA.
Lena HafrenDepartment of Otorhinolaryngology, Head & Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Tori C BootpetchDepartment of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Talitha Karisse L YarzaPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Matthew J SteritzDepartment of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Melquiadesa PedroPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Patrick John LabraPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Kathleen A DalyDepartment of Otolaryngology, Head and Neck Surgery, University of Minnesota, Minneapolis, Minnesota, USA.
Ma Leah C TantocoPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Wasyl SzeremetaDepartment of Otolaryngology, University of Texas Medical Branch at Galveston, Galveston, Texas, USA.
Maria Rina T Reyes-QuintosPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Niaz AhankoobDepartment of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Erasmo Gonzalo D V LlanesPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Harold S PineDepartment of Otolaryngology, University of Texas Medical Branch at Galveston, Galveston, Texas, USA.
Sairah YousafDepartment of Otorhinolaryngology, Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA.
Diana IrDepartment of Medicine, Division of Infectious Diseases, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Elisabet EinarsdottirFolkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.
Rhodieleen Anne R de la CruzDepartment of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines.
Nanette R LeeDepartment of Anthropology, Sociology and History, University of San Carlos, Cebu City, Philippines.
Rachelle Marie A NonatoDepartment of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines.
Charles E RobertsonDepartment of Medicine, Division of Infectious Diseases, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Kimberly Mae C OngDepartment of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines.
Jose Pedrito M MagnoDepartment of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines.
Alessandra Nadine E ChiongPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Ma Carmina Espiritu-ChiongRenergy Dermatology & Laser Center, Taguig City, Philippines.
Maria Luz San AgustinPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Teresa Luisa G CruzPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Generoso T AbesPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Michael J BamshadDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Eva Maria Cutiongco-de la PazNational Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Juha KereFolkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Karen L MohlkeDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Saima RiazuddinDepartment of Otorhinolaryngology, Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA.
Abner ChanPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Petri S MattilaDepartment of Otorhinolaryngology, Head & Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University, New York, New York, USA.
Allen F RyanDivision of Otolaryngology, Department of Surgery, University of California San Diego School of Medicine and Veterans Affairs Medical Center, La Jolla, California, USA.
Zubair M AhmedDepartment of Otorhinolaryngology, Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA.ORCID 0000-0003-2914-4502
Tasnee ChonmaitreeDivision of Infectious Diseases, Department of Pediatrics, University of Texas Medical Branch at Galveston, Galveston, Texas, USA.
Michele M SaleCenter for Public Health Genomics, School of Medicine, Department of Biochemistry and Molecular Genetics, and Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA.
Charlotte M ChiongPhilippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.
Regie Lyn P Santos-CortezDepartment of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA regie.santos-cortez@cuanschutz.edu.ORCID 0000-0002-9958-2535
Philippine General Hospital · PHUniversity of Colorado Anschutz Medical Campus · USUniversity of Helsinki · FIUniversity of Maryland, Baltimore · USUniversity of the Philippines Manila · PHThe University of Texas Medical Branch at Galveston · USUniversity of Washington · USChildren's Hospital Colorado · USColumbia University · USUniversity of California San Diego · USUniversity of Minnesota · USUniversity of North Carolina at Chapel Hill · USUniversity of San Carlos · PHUniversity of Virginia · US
Funding
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Hazel B Nichols · 2001 to 2026
$36.3MUNIV OF NORTH CAROLINA CLINICAL NUTRITION RESEARCH UNITP30DK056350 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Venkata Saroja Voruganti · 1999 to 2026
$31.6MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MGenetic Epidemiology of Body Mass Index, Adiposity and Weight GainR01DK078150 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI MOHLKE, KAREN L. · 2007 to 2010
$2.3MOtitis Media Susceptibility and Middle Ear Microbial Shifts due to Gene VariantsR01DC015004 · NIDCD · UNIVERSITY OF COLORADO DENVER · PI SANTOS-CORTEZ, REGIE LYN PASTOR · 2016 to 2020
$1.9MObesity development and CVD risk factor--Filipino womenR01HL085144 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ADAIR, LINDA S · 2006 to 2009
$1.9MAn Interdisciplinary Strategy for Obesity (RMI)P20RR020649 · NCRR · UNIV OF NORTH CAROLINA CHAPEL HILL · PI POPKIN, BARRY M · 2004 to 2006
$1.7MEffect of Health on Education &Work in Filipino YouthR01TW005596 · FIC · UNIVERSITY OF NORTH CAROLINA CHAPEL HILL · PI ADAIR, LINDA S · 2001 to 2005
$1.5MWeight, Diet, Genes and CVD Risk Factors (Hypertension and Diabetes)R01TW008288 · FIC · UNIVERSITY OF SAN CARLOS · PI MAYOL, NANETTE LEE · 2009 to 2011
$152kFIC NIH HHS R01 TW005596FIC NIH HHS R01 TW008288NCRR NIH HHS P20 RR020649NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NHLBI NIH HHS R01 HL085144NIDCD NIH HHS R01 DC015004NIDDK NIH HHS P30 DK056350NIDDK NIH HHS R01 DK078150NIEHS NIH HHS P30 ES010126
Abstract
backgroundOtitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility.
methodsWe performed exome and Sanger sequencing of >1000 DNA samples from 551 multiethnic families with OM and unrelated individuals, RNA-sequencing and microbiome sequencing and analyses of swabs from the outer ear, middle ear, nasopharynx and oral cavity. We also examined protein localisation and gene expression in infected and healthy middle ear tissues.
resultsA large, intermarried pedigree that includes 81 OM-affected and 53 unaffected individuals cosegregates two known rare
conclusion
Indexed as
MicrobiotaAdultAnimalsBacteriaChildDisease SusceptibilityEar, ExternalEar, MiddleExomeFemaleGenetic Predisposition to DiseaseHumansMaleMiceMouthNasopharynxSerine Peptidase Inhibitor Kazal-Type 5SPINK5 protein, humancomplex traitsgenetic epidemiologyinfectioninfectious diseaseslinkage
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