Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia
Age-Related Hearing Impairment (ARHI) is one of the frequent sensory disorders registered in 50% of individuals over 80 years. ARHI is a multifactorial disorder due to environmental and poor-known genetic components. In this study, we present the data on age-related hearing impairment of 48 heterozy...
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Online Access: | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069185 http://www.ncbi.nlm.nih.gov/pubmed/24959830 https://doi.org/10.1371/journal.pone.0100848 |
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ftpubmed:oai:pubmedcentral.nih.gov:4069185 2023-05-15T18:06:45+02:00 Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia Barashkov, Nikolay A. Teryutin, Fedor M. Pshennikova, Vera G. Solovyev, Aisen V. Klarov, Leonid A. Solovyeva, Natalya A. Kozhevnikov, Andrei A. Vasilyeva, Lena M. Fedotova, Elvira E. Pak, Maria V. Lekhanova, Sargylana N. Zakharova, Elena V. Savvinova, Kyunney E. Gotovtsev, Nyurgun N. Rafailo, Adyum M. Luginov, Nikolay V. Alexeev, Anatoliy N. Posukh, Olga L. Dzhemileva, Lilya U. Khusnutdinova, Elza K. Fedorova, Sardana A. 2014-06-24 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069185 http://www.ncbi.nlm.nih.gov/pubmed/24959830 https://doi.org/10.1371/journal.pone.0100848 en eng Public Library of Science http://www.ncbi.nlm.nih.gov/pmc/articles/PMC http://www.ncbi.nlm.nih.gov/pubmed/24959830 http://dx.doi.org/10.1371/journal.pone.0100848 This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. CC-BY Research Article Text 2014 ftpubmed https://doi.org/10.1371/journal.pone.0100848 2014-06-29T00:57:05Z Age-Related Hearing Impairment (ARHI) is one of the frequent sensory disorders registered in 50% of individuals over 80 years. ARHI is a multifactorial disorder due to environmental and poor-known genetic components. In this study, we present the data on age-related hearing impairment of 48 heterozygous carriers of mutation IVS1+1G>A (GJB2 gene) and 97 subjects with GJB2 genotype wt/wt in the Republic of Sakha/Yakutia (Eastern Siberia, Russia). This subarctic territory was found as the region with the most extensive accumulation of mutation IVS1+1G>A in the world as a result of founder effect in the unique Yakut population isolate. The GJB2 gene resequencing and detailed audiological analysis in the frequency range 0.25, 0.5, 1.0, 2.0, 4.0, 8.0 kHz were performed in all examined subjects that allowed to investigate genotype-phenotype correlations between the presence of single mutation IVS1+1G>A and hearing of subjects from examined groups. We revealed the linear correlation between increase of average hearing thresholds at speech frequencies (PTA0.5,1.0,2.0,4.0 kHz) and age of individuals with GJB2 genotype IVS1+1G>A/wt (rs = 0.499, p = 0.006860 for males and rs = 0.427, p = 0.000277 for females). Moreover, the average hearing thresholds on high frequency (8.0 kHz) in individuals with genotype IVS1+1G>A/wt (both sexes) were significantly worse than in individuals with genotype wt/wt (p<0.05). Age of hearing loss manifestation in individuals with genotype IVS1+1G>A/wt was estimated to be ∼40 years (rs = 0.504, p = 0.003). These findings demonstrate that the single IVS1+1G>A mutation (GJB2) is associated with age-related hearing impairment (ARHI) of the IVS1+1G>A carriers in the Yakuts. Text Republic of Sakha Sakha Subarctic Yakut Yakutia Yakuts Siberia PubMed Central (PMC) Sakha PLoS ONE 9 6 e100848 |
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Research Article Barashkov, Nikolay A. Teryutin, Fedor M. Pshennikova, Vera G. Solovyev, Aisen V. Klarov, Leonid A. Solovyeva, Natalya A. Kozhevnikov, Andrei A. Vasilyeva, Lena M. Fedotova, Elvira E. Pak, Maria V. Lekhanova, Sargylana N. Zakharova, Elena V. Savvinova, Kyunney E. Gotovtsev, Nyurgun N. Rafailo, Adyum M. Luginov, Nikolay V. Alexeev, Anatoliy N. Posukh, Olga L. Dzhemileva, Lilya U. Khusnutdinova, Elza K. Fedorova, Sardana A. Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia |
topic_facet |
Research Article |
description |
Age-Related Hearing Impairment (ARHI) is one of the frequent sensory disorders registered in 50% of individuals over 80 years. ARHI is a multifactorial disorder due to environmental and poor-known genetic components. In this study, we present the data on age-related hearing impairment of 48 heterozygous carriers of mutation IVS1+1G>A (GJB2 gene) and 97 subjects with GJB2 genotype wt/wt in the Republic of Sakha/Yakutia (Eastern Siberia, Russia). This subarctic territory was found as the region with the most extensive accumulation of mutation IVS1+1G>A in the world as a result of founder effect in the unique Yakut population isolate. The GJB2 gene resequencing and detailed audiological analysis in the frequency range 0.25, 0.5, 1.0, 2.0, 4.0, 8.0 kHz were performed in all examined subjects that allowed to investigate genotype-phenotype correlations between the presence of single mutation IVS1+1G>A and hearing of subjects from examined groups. We revealed the linear correlation between increase of average hearing thresholds at speech frequencies (PTA0.5,1.0,2.0,4.0 kHz) and age of individuals with GJB2 genotype IVS1+1G>A/wt (rs = 0.499, p = 0.006860 for males and rs = 0.427, p = 0.000277 for females). Moreover, the average hearing thresholds on high frequency (8.0 kHz) in individuals with genotype IVS1+1G>A/wt (both sexes) were significantly worse than in individuals with genotype wt/wt (p<0.05). Age of hearing loss manifestation in individuals with genotype IVS1+1G>A/wt was estimated to be ∼40 years (rs = 0.504, p = 0.003). These findings demonstrate that the single IVS1+1G>A mutation (GJB2) is associated with age-related hearing impairment (ARHI) of the IVS1+1G>A carriers in the Yakuts. |
format |
Text |
author |
Barashkov, Nikolay A. Teryutin, Fedor M. Pshennikova, Vera G. Solovyev, Aisen V. Klarov, Leonid A. Solovyeva, Natalya A. Kozhevnikov, Andrei A. Vasilyeva, Lena M. Fedotova, Elvira E. Pak, Maria V. Lekhanova, Sargylana N. Zakharova, Elena V. Savvinova, Kyunney E. Gotovtsev, Nyurgun N. Rafailo, Adyum M. Luginov, Nikolay V. Alexeev, Anatoliy N. Posukh, Olga L. Dzhemileva, Lilya U. Khusnutdinova, Elza K. Fedorova, Sardana A. |
author_facet |
Barashkov, Nikolay A. Teryutin, Fedor M. Pshennikova, Vera G. Solovyev, Aisen V. Klarov, Leonid A. Solovyeva, Natalya A. Kozhevnikov, Andrei A. Vasilyeva, Lena M. Fedotova, Elvira E. Pak, Maria V. Lekhanova, Sargylana N. Zakharova, Elena V. Savvinova, Kyunney E. Gotovtsev, Nyurgun N. Rafailo, Adyum M. Luginov, Nikolay V. Alexeev, Anatoliy N. Posukh, Olga L. Dzhemileva, Lilya U. Khusnutdinova, Elza K. Fedorova, Sardana A. |
author_sort |
Barashkov, Nikolay A. |
title |
Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia |
title_short |
Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia |
title_full |
Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia |
title_fullStr |
Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia |
title_full_unstemmed |
Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia |
title_sort |
age-related hearing impairment (arhi) associated with gjb2 single mutation ivs1+1g>a in the yakut population isolate in eastern siberia |
publisher |
Public Library of Science |
publishDate |
2014 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069185 http://www.ncbi.nlm.nih.gov/pubmed/24959830 https://doi.org/10.1371/journal.pone.0100848 |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Republic of Sakha Sakha Subarctic Yakut Yakutia Yakuts Siberia |
genre_facet |
Republic of Sakha Sakha Subarctic Yakut Yakutia Yakuts Siberia |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC http://www.ncbi.nlm.nih.gov/pubmed/24959830 http://dx.doi.org/10.1371/journal.pone.0100848 |
op_rights |
This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
op_rightsnorm |
CC-BY |
op_doi |
https://doi.org/10.1371/journal.pone.0100848 |
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PLoS ONE |
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e100848 |
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