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Rare A2ML1 variants confer susceptibility to otitis media.
Santos-Cortez, Regie Lyn P; Chiong, Charlotte M; Reyes-Quintos, Ma Rina T; Tantoco, Ma Leah C; Wang, Xin; Acharya, Anushree; Abbe, Izoduwa; Giese, Arnaud P; Smith, Joshua D; Allen, E Kaitlynn; Li, Biao; Cutiongco-de la Paz, Eva Maria; Garcia, Marieflor Cristy; Llanes, Erasmo Gonzalo D V; Labra, Patrick John; Gloria-Cruz, Teresa Luisa I; Chan, Abner L; Wang, Gao T; Daly, Kathleen A; Shendure, Jay; Bamshad, Michael J; Nickerson, Deborah A; Patel, Janak A; Riazuddin, Saima; Sale, Michele M; Chonmaitree, Tasnee; Ahmed, Zubair M; Abes, Generoso T; Leal, Suzanne M.
Affiliation
  • Santos-Cortez RL; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Chiong CM; 1] 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.
  • Reyes-Quintos MR; 1] 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.
  • Tantoco ML; Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.
  • Wang X; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Acharya A; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Abbe I; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Giese AP; Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
  • Smith JD; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Allen EK; 1] 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.
  • Li B; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Cutiongco-de la Paz EM; 1] 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.
  • Garcia MC; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
  • Llanes EG; 1] 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.
  • Labra PJ; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
  • Gloria-Cruz TL; 1] 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.
  • Chan AL; 1] 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.
  • Wang GT; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Daly KA; Department of Otolaryngology, Head and Neck Surgery, University of Minnesota, Minneapolis, Minnesota, USA.
  • Shendure J; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Patel JA; Division of Pediatric Infectious Disease and Immunology, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA.
  • Riazuddin S; Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
  • Sale MM; 1] 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, Charlottes
  • Chonmaitree T; Division of Pediatric Infectious Disease and Immunology, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA.
  • Ahmed ZM; Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
  • Abes GT; 1] 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.
  • Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Nat Genet ; 47(8): 917-20, 2015 Aug.
Article in En | MEDLINE | ID: mdl-26121085
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Otitis Media / Alpha-Macroglobulins / Genetic Predisposition to Disease / Gene Duplication Type of study: Prognostic_studies Limits: Animals / Child / Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Otitis Media / Alpha-Macroglobulins / Genetic Predisposition to Disease / Gene Duplication Type of study: Prognostic_studies Limits: Animals / Child / Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: United States