دورية أكاديمية
Rare A2ML1 variants confer susceptibility to otitis media.
| العنوان: | Rare A2ML1 variants confer susceptibility to otitis media. |
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| المؤلفون: | 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, Charlottesville, Virginia, USA., 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. |
| مؤلفون مشاركون: | University of Washington Center for Mendelian Genomics |
| المصدر: | Nature genetics [Nat Genet] 2015 Aug; Vol. 47 (8), pp. 917-20. Date of Electronic Publication: 2015 Jun 29. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Nature Pub. Co., c1992- |
| مواضيع طبية MeSH: | Gene Duplication*, Genetic Predisposition to Disease/*genetics , Otitis Media/*genetics , alpha-Macroglobulins/*genetics, Animals ; Base Sequence ; Child ; Cochlea/metabolism ; Cochlea/pathology ; Exome/genetics ; Family Health ; Female ; Gene Frequency ; Genotype ; Haplotypes ; Humans ; Male ; Mice, Inbred C57BL ; Models, Molecular ; Otitis Media/pathology ; Pedigree ; Principal Component Analysis ; Protein Conformation ; Sequence Analysis, DNA ; alpha-Macroglobulins/chemistry |
| مستخلص: | 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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| معلومات مُعتمدة: | U54 HG006493 United States HG NHGRI NIH HHS; R01 DC011651 United States DC NIDCD NIH HHS; R01 DC005841 United States DC NIDCD NIH HHS; R01 DC012564 United States DC NIDCD NIH HHS; R01 DC003166 United States DC NIDCD NIH HHS; F27 United Kingdom ACT_ RNID; R01 DC003594 United States DC NIDCD NIH HHS; R01 DK084350 United States DK NIDDK NIH HHS; UM1 HG006493 United States HG NHGRI NIH HHS; R01 DC011803 United States DC NIDCD NIH HHS |
| فهرسة مساهمة: | Investigator: MJ Bamshad; J Shendure; DA Nickerson; GR Abecasis; P Anderson; M Annable; M Beightol; BL Browning; KJ Buckingham; C Chen; J Chin; JX Chong; GM Cooper; C Davis; L Felker; C Frazar; D Hanna; Z He; P Jain; GP Jarvik; E Johanson; G Jun; M Kircher; T Kolar; SM Leal; D Luksic; MJ McMillin; S McGee; B Munson; BJ O'Roak; B Paeper; K Patterson; E Phillips; J Pijoan; C Poel; PD Robertson; R Santos-Cortez; T Shaffer; C Shephard; DL Siegel; JD Smith; JC Staples; HK Tabor; M Tackett; G Wang; Q Yi |
| المشرفين على المادة: | 0 (A2ML1 protein, human) 0 (alpha-Macroglobulins) |
| تواريخ الأحداث: | Date Created: 20150630 Date Completed: 20151026 Latest Revision: 20231115 |
| رمز التحديث: | 20231115 |
| مُعرف محوري في PubMed: | PMC4528370 |
| DOI: | 10.1038/ng.3347 |
| PMID: | 26121085 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1546-1718 |
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| DOI: | 10.1038/ng.3347 |