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...
Published in: | PLoS ONE |
---|---|
Main Authors: | , , , , , , , , , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Public Library of Science (PLoS)
2014
|
Subjects: | |
Online Access: | https://doi.org/10.1371/journal.pone.0100848 https://doaj.org/article/81ddea6820c846f3858073e257a4b365 |
id |
ftdoajarticles:oai:doaj.org/article:81ddea6820c846f3858073e257a4b365 |
---|---|
record_format |
openpolar |
spelling |
ftdoajarticles:oai:doaj.org/article:81ddea6820c846f3858073e257a4b365 2023-05-15T18:06:46+02:00 Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia. Nikolay A Barashkov Fedor M Teryutin Vera G Pshennikova Aisen V Solovyev Leonid A Klarov Natalya A Solovyeva Andrei A Kozhevnikov Lena M Vasilyeva Elvira E Fedotova Maria V Pak Sargylana N Lekhanova Elena V Zakharova Kyunney E Savvinova Nyurgun N Gotovtsev Adyum M Rafailo Nikolay V Luginov Anatoliy N Alexeev Olga L Posukh Lilya U Dzhemileva Elza K Khusnutdinova Sardana A Fedorova 2014-01-01T00:00:00Z https://doi.org/10.1371/journal.pone.0100848 https://doaj.org/article/81ddea6820c846f3858073e257a4b365 EN eng Public Library of Science (PLoS) http://europepmc.org/articles/PMC4069185?pdf=render https://doaj.org/toc/1932-6203 1932-6203 doi:10.1371/journal.pone.0100848 https://doaj.org/article/81ddea6820c846f3858073e257a4b365 PLoS ONE, Vol 9, Iss 6, p e100848 (2014) Medicine R Science Q article 2014 ftdoajarticles https://doi.org/10.1371/journal.pone.0100848 2022-12-31T00:36:09Z 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. Article in Journal/Newspaper Republic of Sakha Sakha Subarctic Yakut Yakutia Yakuts Siberia Directory of Open Access Journals: DOAJ Articles Sakha PLoS ONE 9 6 e100848 |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
Medicine R Science Q |
spellingShingle |
Medicine R Science Q Nikolay A Barashkov Fedor M Teryutin Vera G Pshennikova Aisen V Solovyev Leonid A Klarov Natalya A Solovyeva Andrei A Kozhevnikov Lena M Vasilyeva Elvira E Fedotova Maria V Pak Sargylana N Lekhanova Elena V Zakharova Kyunney E Savvinova Nyurgun N Gotovtsev Adyum M Rafailo Nikolay V Luginov Anatoliy N Alexeev Olga L Posukh Lilya U Dzhemileva Elza K Khusnutdinova Sardana A Fedorova Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia. |
topic_facet |
Medicine R Science Q |
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 |
Article in Journal/Newspaper |
author |
Nikolay A Barashkov Fedor M Teryutin Vera G Pshennikova Aisen V Solovyev Leonid A Klarov Natalya A Solovyeva Andrei A Kozhevnikov Lena M Vasilyeva Elvira E Fedotova Maria V Pak Sargylana N Lekhanova Elena V Zakharova Kyunney E Savvinova Nyurgun N Gotovtsev Adyum M Rafailo Nikolay V Luginov Anatoliy N Alexeev Olga L Posukh Lilya U Dzhemileva Elza K Khusnutdinova Sardana A Fedorova |
author_facet |
Nikolay A Barashkov Fedor M Teryutin Vera G Pshennikova Aisen V Solovyev Leonid A Klarov Natalya A Solovyeva Andrei A Kozhevnikov Lena M Vasilyeva Elvira E Fedotova Maria V Pak Sargylana N Lekhanova Elena V Zakharova Kyunney E Savvinova Nyurgun N Gotovtsev Adyum M Rafailo Nikolay V Luginov Anatoliy N Alexeev Olga L Posukh Lilya U Dzhemileva Elza K Khusnutdinova Sardana A Fedorova |
author_sort |
Nikolay A Barashkov |
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 (PLoS) |
publishDate |
2014 |
url |
https://doi.org/10.1371/journal.pone.0100848 https://doaj.org/article/81ddea6820c846f3858073e257a4b365 |
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_source |
PLoS ONE, Vol 9, Iss 6, p e100848 (2014) |
op_relation |
http://europepmc.org/articles/PMC4069185?pdf=render https://doaj.org/toc/1932-6203 1932-6203 doi:10.1371/journal.pone.0100848 https://doaj.org/article/81ddea6820c846f3858073e257a4b365 |
op_doi |
https://doi.org/10.1371/journal.pone.0100848 |
container_title |
PLoS ONE |
container_volume |
9 |
container_issue |
6 |
container_start_page |
e100848 |
_version_ |
1766178429641687040 |