Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population
Introduction: Presbycusis or age-related hearing loss (ARHL) is a ubiquitous health problem. It is estimated that it will affect up to 1.5 billion people by 2025. In addition, tinnitus occurs in a large majority of cases with presbycusis. Glutamate metabotropic receptor 7 (GRM7) and N-acetyltransfer...
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| Format: | Article |
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Frontiers Media S.A.
2017-11-01
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| Series: | Frontiers in Aging Neuroscience |
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| Online Access: | http://journal.frontiersin.org/article/10.3389/fnagi.2017.00346/full |
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| author | Haúla F. Haider Marisa Flook Mariana Aparicio Diogo Ribeiro Marilia Antunes Agnieszka J. Szczepek Derek J. Hoare Graça Fialho João C. Paço Helena Caria Helena Caria |
| author_facet | Haúla F. Haider Marisa Flook Mariana Aparicio Diogo Ribeiro Marilia Antunes Agnieszka J. Szczepek Derek J. Hoare Graça Fialho João C. Paço Helena Caria Helena Caria |
| author_sort | Haúla F. Haider |
| collection | DOAJ |
| description | Introduction: Presbycusis or age-related hearing loss (ARHL) is a ubiquitous health problem. It is estimated that it will affect up to 1.5 billion people by 2025. In addition, tinnitus occurs in a large majority of cases with presbycusis. Glutamate metabotropic receptor 7 (GRM7) and N-acetyltransferase 2 (NAT2) are some of the genetic markers for presbycusis.Objectives: To explore patterns of hearing loss and the role of GRM7 and NAT2 as possible markers of presbycusis and tinnitus in a Portuguese population sample.Materials and Methods: Tonal and speech audiometry, tinnitus assessment, clinical interview, and DNA samples were obtained from patients aged from 55 to 75 with or without tinnitus. GRM7 analysis was performed by qPCR. Genotyping of single nucleotide polymorphisms (SNPs) in NAT2 was performed by PCR amplification followed by Sanger sequencing or by qPCR.Results: We screened samples from 78 individuals (33 men and 45 women). T allele at GRM7 gene was the most observed (60.3% T/T and 33.3% A/T). Individuals with a T/T genotype have a higher risk for ARHL and 33% lower risk for tinnitus, compared to individuals with A/A and A/T genotype, respectively. Being a slow acetylator (53%) was the most common NAT2 phenotype, more common in men (55.8%). Intermediate acetylator was the second most common phenotype (35.9%) also more frequent in men (82.6%). Noise exposed individuals and individuals with ‘high frequency’ hearing loss seem to have a higher risk for tinnitus. Our data suggests that allele AT of GRM7 can have a statistically significant influence toward the severity of tinnitus.Conclusion: For each increasing year of age the chance of HL increases by 9%. The risk for ARHL was not significantly associated with GRM7 neither NAT2. However, we cannot conclude from our data whether the presence of T allele at GRM7 increases the odds for ARHL or whether the A allele has a protective effect. Genotype A/T at GRM7 could potentially be considered a biomarker of tinnitus severity. This is the first study evaluating the effect of GRM7 and NAT2 gene in tinnitus. |
| first_indexed | 2024-04-13T06:23:23Z |
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| institution | Directory Open Access Journal |
| issn | 1663-4365 |
| language | English |
| last_indexed | 2024-04-13T06:23:23Z |
| publishDate | 2017-11-01 |
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| series | Frontiers in Aging Neuroscience |
| spelling | doaj.art-2ee2d47e70c14c24b18cce6831eae4a92022-12-22T02:58:31ZengFrontiers Media S.A.Frontiers in Aging Neuroscience1663-43652017-11-01910.3389/fnagi.2017.00346299266Biomarkers of Presbycusis and Tinnitus in a Portuguese Older PopulationHaúla F. Haider0Marisa Flook1Mariana Aparicio2Diogo Ribeiro3Marilia Antunes4Agnieszka J. Szczepek5Derek J. Hoare6Graça Fialho7João C. Paço8Helena Caria9Helena Caria10ENT Department, Hospital Cuf Infante Santo, NOVA Medical School, Lisbon, PortugalDeafness Research Group, BTR Unit, BioISI, Faculty of Sciences, University of Lisbon (FCUL), Lisbon, PortugalFaculty of Sciences, University of Lisbon, Lisbon, PortugalENT Department, Hospital Cuf Infante Santo, NOVA Medical School, Lisbon, PortugalCentro de Estatística e Aplicações, Faculty of Sciences, University of Lisbon, Lisbon, PortugalDepartment of Otolaryngology, Charite University Hospital, Berlin, GermanyNIHR Nottingham Biomedical Research Centre, Division of Clinical Neuroscience, School of Medicine, University of Nottingham, Nottingham, United KingdomDeafness Research Group, BTR Unit, BioISI, Faculty of Sciences, University of Lisbon (FCUL), Lisbon, PortugalENT Department, Hospital Cuf Infante Santo, NOVA Medical School, Lisbon, PortugalDeafness Research Group, BTR Unit, BioISI, Faculty of Sciences, University of Lisbon (FCUL), Lisbon, PortugalESS/IPS- Biomedical Sciences Department, School of Health, Polytechnic Institute of Setubal, Setubal, PortugalIntroduction: Presbycusis or age-related hearing loss (ARHL) is a ubiquitous health problem. It is estimated that it will affect up to 1.5 billion people by 2025. In addition, tinnitus occurs in a large majority of cases with presbycusis. Glutamate metabotropic receptor 7 (GRM7) and N-acetyltransferase 2 (NAT2) are some of the genetic markers for presbycusis.Objectives: To explore patterns of hearing loss and the role of GRM7 and NAT2 as possible markers of presbycusis and tinnitus in a Portuguese population sample.Materials and Methods: Tonal and speech audiometry, tinnitus assessment, clinical interview, and DNA samples were obtained from patients aged from 55 to 75 with or without tinnitus. GRM7 analysis was performed by qPCR. Genotyping of single nucleotide polymorphisms (SNPs) in NAT2 was performed by PCR amplification followed by Sanger sequencing or by qPCR.Results: We screened samples from 78 individuals (33 men and 45 women). T allele at GRM7 gene was the most observed (60.3% T/T and 33.3% A/T). Individuals with a T/T genotype have a higher risk for ARHL and 33% lower risk for tinnitus, compared to individuals with A/A and A/T genotype, respectively. Being a slow acetylator (53%) was the most common NAT2 phenotype, more common in men (55.8%). Intermediate acetylator was the second most common phenotype (35.9%) also more frequent in men (82.6%). Noise exposed individuals and individuals with ‘high frequency’ hearing loss seem to have a higher risk for tinnitus. Our data suggests that allele AT of GRM7 can have a statistically significant influence toward the severity of tinnitus.Conclusion: For each increasing year of age the chance of HL increases by 9%. The risk for ARHL was not significantly associated with GRM7 neither NAT2. However, we cannot conclude from our data whether the presence of T allele at GRM7 increases the odds for ARHL or whether the A allele has a protective effect. Genotype A/T at GRM7 could potentially be considered a biomarker of tinnitus severity. This is the first study evaluating the effect of GRM7 and NAT2 gene in tinnitus.http://journal.frontiersin.org/article/10.3389/fnagi.2017.00346/fullpresbycusisGRM7NAT2tinnitusmarkerscomorbidities |
| spellingShingle | Haúla F. Haider Marisa Flook Mariana Aparicio Diogo Ribeiro Marilia Antunes Agnieszka J. Szczepek Derek J. Hoare Graça Fialho João C. Paço Helena Caria Helena Caria Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population Frontiers in Aging Neuroscience presbycusis GRM7 NAT2 tinnitus markers comorbidities |
| title | Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population |
| title_full | Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population |
| title_fullStr | Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population |
| title_full_unstemmed | Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population |
| title_short | Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population |
| title_sort | biomarkers of presbycusis and tinnitus in a portuguese older population |
| topic | presbycusis GRM7 NAT2 tinnitus markers comorbidities |
| url | http://journal.frontiersin.org/article/10.3389/fnagi.2017.00346/full |
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