Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment
| Autor: | Adolfo Correa, Dragana Vuckovic, Chuang Ming Li, Sheila R. Pratt, Vilmundur Gudnason, Robert C. Kaplan, Massimiliano Cocca, Giorgia Girotto, Frances M K Williams, Nona Sotoodehnia, Christopher Spankovich, T. Ryan Price, Charles E. Bishop, Johanna Jakobsdottir, W. T. Longstreth, Howard J. Hoffman, Karen Valle, Mark W. Christiansen, Erik Fransen, Helena R R Wells, John M. Schweinfurth, André G. Uitterlinden, Mohammad Arfan Ikram, Guy Van Camp, Daniel S. Evans, Paolo Gasparini, Linda Broer, Gregory J. Tranah, Marco Brumat, Andries Paul Nagtegaal, Mike A. Nalls, Mary Rachel Stimson, Sudha Seshadri, Gudny Eiriksdottir, Karen J. Cruickshanks, Yan Gao, Nancy L. Heard-Costa, Nuno R. Zilhão, James G. Wilson, Nathan Pankratz, André Goedegebure, Claire J. Steves |
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| Přispěvatelé: | Otorhinolaryngology and Head and Neck Surgery, Internal Medicine, Epidemiology, Nagtegaal, A. P., Broer, L., Zilhao, N. R., Jakobsdottir, J., Bishop, C. E., Brumat, M., Christiansen, M. W., Cocca, M., Gao, Y., Heard-Costa, N. L., Evans, D. S., Pankratz, N., Pratt, S. R., Price, T. R., Spankovich, C., Stimson, M. R., Valle, K., Vuckovic, D., Wells, H., Eiriksdottir, G., Fransen, E., Ikram, M. A., Li, C. -M., Longstreth, W. T., Steves, C., Van Camp, G., Correa, A., Cruickshanks, K. J., Gasparini, P., Girotto, G., Kaplan, R. C., Nalls, M., Schweinfurth, J. M., Seshadri, S., Sotoodehnia, N., Tranah, G. J., Uitterlinden, A. G., Wilson, J. G., Gudnason, V., Hoffman, H. J., Williams, F. M. K., Goedegebure, A. |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Aging Auditory Pathways Genome-wide association study Audiology Genome-wide association studies Mice 0302 clinical medicine Genetics research GWAS age-related hearing lo Multidisciplinary Middle Aged Phenotype age-related hearing loss Meta-analysis Medicine Female medicine.symptom medicine.medical_specialty Hearing loss Science Single-nucleotide polymorphism Biology Article ARHL 03 medical and health sciences medicine otorhinolaryngologic diseases SNP Animals Humans Genetic Predisposition to Disease Hearing Loss Gene Reproducibility of Results Molecular Sequence Annotation Genetic architecture 030104 developmental biology Gene Expression Regulation Genetic Loci Human medicine 030217 neurology & neurosurgery Genome-Wide Association Study |
| Zdroj: | Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019) Scientific Reports, 9:15192. Nature Publishing Group Scientific reports Scientific Reports |
| ISSN: | 2045-2322 |
| Popis: | Previous research has shown that genes play a substantial role in determining a person’s susceptibility to age-related hearing impairment. The existing studies on this subject have different results, which may be caused by difficulties in determining the phenotype or the limited number of participants involved. Here, we have gathered the largest sample to date (discovery n = 9,675; replication n = 10,963; validation n = 356,141), and examined phenotypes that represented low/mid and high frequency hearing loss on the pure tone audiogram. We identified 7 loci that were either replicated and/or validated, of which 5 loci are novel in hearing. Especially the ILDR1 gene is a high profile candidate, as it contains our top SNP, is a known hearing loss gene, has been linked to age-related hearing impairment before, and in addition is preferentially expressed within hair cells of the inner ear. By verifying all previously published SNPs, we can present a paper that combines all new and existing findings to date, giving a complete overview of the genetic architecture of age-related hearing impairment. This is of importance as age-related hearing impairment is highly prevalent in our ageing society and represents a large socio-economic burden. |
| Databáze: | OpenAIRE |
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