Age-related hearing loss: Genetic risk factors and social impact
Age-related hearing loss: Genetic risk factors and social impact
Presbycusis or age- related hearing loss (ARHL) is the most com m on sensory impairment in the elderly, oft en leading to social isolation and diminished quality of life, and affecting millions of people worldwide. ARHL is a multifaceted com m on phenomenon, w it h a broad spectrum of causes, bot h environment al and genetic, and cognitive and psychosocial consequences. Genetic susceptibility associated with presbycusis implies that ARHL isn't an inevitable condition, but a complex disease with possible treatment and prevent ion. This assumption, combined with the few inform at ion still existing about the epidemiology of hearing loss in elderly people and about the manifestation of several etiological factors for this condition, justifies the relevance of the project here proposed.
Previous studies found an association between presbycusis and some genes involved in hereditary deafness - GJB2 and KCNQ4 - or in oxidative metabolism - NAT2, GSTM1, GSTT1, GRHL2 and GRM7. I n t he mitochondrial DNA, t he 4977bp deletion, and haplogroups U and K, have also been associated with presbycusis.
The increase of the elderly population worldwide due to increased life expectancy, highlight s the importance of studies on presbycusis.
The general aim of this study is the identification of epidemiological and etiological factors associated with ARHL in a sample of elder Portuguese individuals (n≈ 1000) through the establishment of statistically significant genotype - phenotype correlations found in t his sample. Specific objectives will include:
a) Hearing screening by perform epidemiological and etiological studies of the individuals from our sample;
b) Genetic screening, by determining the prevalence in the Portuguese elderly population of variant s in genes/loci previously associated with ARHL in other populations;
c) Phenotype- genotype correlation by studying the association between the genetic variant s found and the epidemiological and etiological factors identified on the elderly individuals with presbycusis;
d) Study of the social dimensions of presbycusis, and the sociodemographic description of the elderly individuals of the sample by applying a questionnaire that also considers the processes of aging, uses of the time, occupations, and social networks.
In conclusion, the present project will contribute to improving the knowledge on the epidemiology of presbycusis, and on genotype - phenotype correlations concerning ARHL in the Portuguese elderly population. I t will also measure the social dimensions associated to this condition in our sample. We also aim to contribute to better counseling and to the definition of the best therapeutic approaches and prevent ion, thus contributing for a hearing healthcare culture regarding elderly people and t o a better quality of life of the elder Portuguese population, having in mind too that 2012 was declared by the European Parliament as t he ‘European Year for Active Ageing and Solidarity between Generations'.
Project Age-related hearing loss: Genetic risk factors and social impact - PTDC/NEU-BEN/1192/2012 - Financed by FCT
Principal Contractor: Fundação da Faculdade de Ciências (FFC/FC/UL)
Participating Institutions: Centro Hospitalar e Universitário de Coimbra, E.P.E. (CHUC), Faculdade de Ciências e Tecnologia da Universidade Nova de Lisboa (FCT/UNL), Instituto de Ciências Sociais (ICS/ULisboa) and Instituto Politécnico de Setúbal (IPSetúbal)
Genetic risk
Age related hearing impairment
Social isolation
Presbycusis or age- related hearing loss (ARHL) is the most com m on sensory impairment in the elderly, oft en leading to social isolation and diminished quality of life, and affecting millions of people worldwide. ARHL is a multifaceted com m on phenomenon, w it h a broad spectrum of causes, bot h environment al and genetic, and cognitive and psychosocial consequences. Genetic susceptibility associated with presbycusis implies that ARHL isn't an inevitable condition, but a complex disease with possible treatment and prevent ion. This assumption, combined with the few inform at ion still existing about the epidemiology of hearing loss in elderly people and about the manifestation of several etiological factors for this condition, justifies the relevance of the project here proposed.
Previous studies found an association between presbycusis and some genes involved in hereditary deafness - GJB2 and KCNQ4 - or in oxidative metabolism - NAT2, GSTM1, GSTT1, GRHL2 and GRM7. I n t he mitochondrial DNA, t he 4977bp deletion, and haplogroups U and K, have also been associated with presbycusis.
The increase of the elderly population worldwide due to increased life expectancy, highlight s the importance of studies on presbycusis.
The general aim of this study is the identification of epidemiological and etiological factors associated with ARHL in a sample of elder Portuguese individuals (n≈ 1000) through the establishment of statistically significant genotype - phenotype correlations found in t his sample. Specific objectives will include:
a) Hearing screening by perform epidemiological and etiological studies of the individuals from our sample;
b) Genetic screening, by determining the prevalence in the Portuguese elderly population of variant s in genes/loci previously associated with ARHL in other populations;
c) Phenotype- genotype correlation by studying the association between the genetic variant s found and the epidemiological and etiological factors identified on the elderly individuals with presbycusis;
d) Study of the social dimensions of presbycusis, and the sociodemographic description of the elderly individuals of the sample by applying a questionnaire that also considers the processes of aging, uses of the time, occupations, and social networks.
In conclusion, the present project will contribute to improving the knowledge on the epidemiology of presbycusis, and on genotype - phenotype correlations concerning ARHL in the Portuguese elderly population. I t will also measure the social dimensions associated to this condition in our sample. We also aim to contribute to better counseling and to the definition of the best therapeutic approaches and prevent ion, thus contributing for a hearing healthcare culture regarding elderly people and t o a better quality of life of the elder Portuguese population, having in mind too that 2012 was declared by the European Parliament as t he ‘European Year for Active Ageing and Solidarity between Generations'.
Project Age-related hearing loss: Genetic risk factors and social impact - PTDC/NEU-BEN/1192/2012 - Financed by FCT
Principal Contractor: Fundação da Faculdade de Ciências (FFC/FC/UL)
Participating Institutions: Centro Hospitalar e Universitário de Coimbra, E.P.E. (CHUC), Faculdade de Ciências e Tecnologia da Universidade Nova de Lisboa (FCT/UNL), Instituto de Ciências Sociais (ICS/ULisboa) and Instituto Politécnico de Setúbal (IPSetúbal)