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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Public Library of Science (PLoS)
2014-01-01
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| Online Access: | http://europepmc.org/articles/PMC4069185?pdf=render |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-10T13:55:18Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-10T13:55:18Z |
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| spelling | doaj.art-81ddea6820c846f3858073e257a4b3652022-12-22T01:46:01ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0196e10084810.1371/journal.pone.0100848Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.Nikolay A BarashkovFedor M TeryutinVera G PshennikovaAisen V SolovyevLeonid A KlarovNatalya A SolovyevaAndrei A KozhevnikovLena M VasilyevaElvira E FedotovaMaria V PakSargylana N LekhanovaElena V ZakharovaKyunney E SavvinovaNyurgun N GotovtsevAdyum M RafailoNikolay V LuginovAnatoliy N AlexeevOlga L PosukhLilya U DzhemilevaElza K KhusnutdinovaSardana A FedorovaAge-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.http://europepmc.org/articles/PMC4069185?pdf=render |
| spellingShingle | 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. PLoS ONE |
| title | 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_short | 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 |
| url | http://europepmc.org/articles/PMC4069185?pdf=render |
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