Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways
| Autor: | Mario Pirastu, Ginevra Biino, Ozren Polasek, Laura Portas, Igor Rudan, Marina Ciullo, Sheila Ulivi, Nicola Pirastu, Paolo Gasparini, Giorgia Girotto, Nicholas D. Hastie, Rossella Sorice, Alan F. Wright, Teresa Nutile, Harry Campbell, Adamo Pio d'Adamo, Caroline Hayward, Tatijana Zemunik |
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| Přispěvatelé: | Medical Genetics, Dept. RSD and Public Health, IRCCS-Burlo Garofolo/University of Trieste, Institute of Genetics and Biophysics, CNR, Naples, Institute of Pop. Genetics, CNR, Sassari, Shardna life science Pula Cagliari, University of Edinburgh, MRC Human Gentics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Croatian Global Health Research Center, University of Split Medical School, MRC Human Gentics Unit, Inst Genet and Mol Med, Western General Hospital, Edinburgh, Girotto, Giorgia, Pirastu, Nicola, R., Sorice, G., Biino, H., Campbell, D'Adamo, ADAMO PIO, N. D., Hastie, T., Nutile, O., Polasek, L., Porta, I., Rudan, S., Ulivi, T., Zemunik, A. F., Wright, M., Ciullo, C., Hayward, M., Pirastu, Gasparini, Paolo |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Male
Hearing Loss: genetics hearing GWAs isolated populations new loci Genetic Linkage Receptor-Like Protein Tyrosine Phosphatases Genome-wide association study Protein-Serine-Threonine Kinase Receptors Metabotropic Glutamate Mice Doublecortin-Like Kinases genetic [Hearing Loss] 0302 clinical medicine Animals Auditory Threshold Carrier Proteins Carrier Proteins: genetics Class 2 Class 2: genetics Databases Europe Europe: epidemiology European Continental Ancestry Group European Continental Ancestry Group: genetics Female Founder Effect Genetic Genome-Wide Association Study Genome-Wide Association Study: methods Hearing Hearing Loss Hearing Loss: ethnology Hearing: genetics Humans Intracellular Signaling Peptides and Proteins Intracellular Signaling Peptides and Proteins: gen Metabotropic Glutamate Metabotropic Glutamate: genetics Phenotype Polymorphism Protein-Serine-Threonine Kinases Protein-Serine-Threonine Kinases: genetics Receptors Single Nucleotide Databases Genetic genetic [Carrier Proteins] Genetic epidemiology Molecular genetics Genetics (clinical) Genetics 0303 health sciences Receptor-Like Protein Tyrosine Phosphatases Class 2 epidemiology [Europe] genetic [European Continental Ancestry Group] ethnology [Hearing Loss] genetic [Class 2] gen [Intracellular Signaling Peptides and Proteins] medicine.symptom Human Receptor medicine.medical_specialty Hearing loss genetic [Hearing] genetic [Metabotropic Glutamate] Single-nucleotide polymorphism Protein Serine-Threonine Kinases Biology Polymorphism Single Nucleotide White People Genetic determinism Database method [Genome-Wide Association Study] 03 medical and health sciences Genetic linkage medicine otorhinolaryngologic diseases SNP Hearing Lo Adaptor Proteins Signal Transducing 030304 developmental biology Animal Receptor-Like Protein Tyrosine Phosphatase genetic [Protein-Serine-Threonine Kinases] Intracellular Signaling Peptides and Protein Carrier Protein 030217 neurology & neurosurgery |
| Zdroj: | Journal of medical genetics 48 (2011): 369–374. doi:10.1136/jmg.2010.088310 info:cnr-pdr/source/autori:Girotto G, Pirastu N, Sorice R, Biino G, Campbell H, d'Adamo AP, Hastie ND, Nutile T, Polasek O, Portas L, Rudan I, Ulivi S, Zemunik T, Wright AF, Ciullo M, Hayward C, Pirastu M, Gasparini P./titolo:Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways./doi:10.1136%2Fjmg.2010.088310/rivista:Journal of medical genetics (Print)/anno:2011/pagina_da:369/pagina_a:374/intervallo_pagine:369–374/volume:48 Journal of Medical Genetics Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.369. ⟨10.1136/jmg.2010.088310⟩ |
| ISSN: | 0022-2593 1468-6244 |
| DOI: | 10.1136/jmg.2010.088310 |
| Popis: | BACKGROUND: Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that underlie auditory function, a genome-wide association study was carried out within the International Consortium G-EAR. METHODS: Meta-analysis of genome-wide association study's data from six isolated populations of European ancestry for an overall number of 3417 individuals. RESULTS: Eight suggestive significant loci (p |
| Databáze: | OpenAIRE |
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