Audioprofiles and antioxidant enzyme genotypes in presbycusis

Objectives/Hypothesis: Audiometric patterns have been shown to indirectly provide information regarding the pathophysiology of presbycusis and be useful in the phenotyping of hereditary deafness. Study Design and Methods: Hospital‐based cohort study of adults with presbycusis, comparing the associat...

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Bibliographic Details
Published in:The Laryngoscope 2012-11, Vol.122 (11), p.2539-2542
Main Authors: Angeli, Simon I., Bared, Anthony, Ouyang, Xiaomei, Du, Li Lin, Yan, Denise, Zhong Liu, Xue
Format: Article
Language:English
Subjects:
age-related hearing loss
Alleles
Antioxidants
Arylamine N-Acetyltransferase - genetics
audiogram
Audiometry
audioprofile
Biological and medical sciences
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Female
Genotype
Glutathione Transferase - genetics
Humans
Level of Evidence: 2b (individual cohort study)
Logistic Models
Male
Medical sciences
Middle Aged
Non tumoral diseases
Otorhinolaryngology. Stomatology
Polymerase Chain Reaction
Polymorphism, Genetic
Presbycusis
Presbycusis - enzymology
Presbycusis - epidemiology
Presbycusis - genetics
Prevalence
Surveys and Questionnaires
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Summary:Objectives/Hypothesis: Audiometric patterns have been shown to indirectly provide information regarding the pathophysiology of presbycusis and be useful in the phenotyping of hereditary deafness. Study Design and Methods: Hospital‐based cohort study of adults with presbycusis, comparing the association of audiometric patterns and polymorphisms of antioxidant enzymes that have been linked to presbycusis: GSTT1, GSTM1 and NAT2. All subjects underwent a clinical evaluation and completed questionnaires regarding ototoxicity and noise exposure. Pure‐tone threshold audiometry was obtained and subjects' audiograms were classified into specific patterns. DNA was extracted from blood and the polymorphisms of GSTT1, GSTM1, and the NAT2 variants (NAT2* 5A; NAT2* 6A,B) were analyzed by PCR. Results: The audiometric patterns that were more prevalent in our cohort were “High‐Frequency Steeply Sloping” or HFSS (33%), “High‐Frequency Gently Sloping” or HFGS (31%), and “Flat” (27%), with other patterns being rare. We did not find a statistical significant effect of gender, age, hearing level, and ear side on the audiometric pattern. Subjects with mutant alleles for GSTT1 were more likely to have a HFSS audiogram than subjects with the wild type genotype. Conclusions: In this cohort, there was a similar prevalence for the three audiometric configurations HFSS, HFGS, and Flat, with other configurations being rare. Subjects with mutant alleles for GSTT1 were more likely to have a HFSS audiogram than subjects with the wild type genotype, suggesting that the basal turn of the cochlea is susceptible to GSTT1 regulated oxidative stress. However, further studies of audioprofiles with larger sample sizes may be needed to establish phenotype‐genotype correlations in presbycusis. Laryngoscope, 2012
ISSN:0023-852X
1531-4995
DOI:10.1002/lary.23577