Тип публикации: статья из журнала

Год издания: 2014

Идентификатор DOI: 10.1371/journal.pone.0100848

Ключевые слова: connexin 26, DNA, gap junction protein, adult, age related hearing impairment, aged, article, auditory threshold, controlled study, DNA extraction, female, gene, gene frequency, gene mutation, gene sequence, genetic association, genotype, GJB2 gene, hearing impairment, human, male, phenotype, Russian Federation, Yakut (people), age, Asian continental ancestry group, chemistry, founder effect, genetics, mutation, nucleotide sequence, physiology, Age Factors, Connexins, DNA Mutational Analysis, Hearing Loss, Humans, Siberia

Аннотация: 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+1GПоказать полностьюA (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+1GA 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+1GA 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+1GA/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+1GA/wt (both sexes) were significantly worse than in individuals with genotype wt/wt (p0.05). Age of hearing loss manifestation in individuals with genotype IVS1+1GA/wt was estimated to be ?40 years (rs = 0.504, p = 0.003). These findings demonstrate that the single IVS1+1GA mutation (GJB2) is associated with age-related hearing impairment (ARHI) of the IVS1+1GA carriers in the Yakuts. © 2014 Barashkov et al.

Журнал: PLoS ONE

Выпуск журнала: Vol. 9, Is. 6

• Barashkov N.A. (Department of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russian Federation, Laboratory of Molecular Biology, Institute of Natural Sciences)
• Teryutin F.M. (Department of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russian Federation, Laboratory of Molecular Biology, Institute of Natural Sciences,)
• Pshennikova V.G. (Department of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russian Federation)
• Solovyev A.V. (Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation)
• Klarov L.A. (Department of Radiology, Republican Hospital 2- Center of Emergency Medicine, Ministry of Public Health of the Sakha Republic, Yakutsk, Russian Federation)
• Solovyeva N.A. (Department of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russian Federation)
• Kozhevnikov A.A. (Republican Centre of Professional Pathology, Republican Hospital 2- Center of Emergency Medicine, Ministry of Public Health of the Sakha Republic, Yakutsk, Russian Federation)
• Vasilyeva L.M. (Audiology-Logopaedic Center, Republican Hospital 1- National Medical Centre, Ministry of Public Health of the Sakha Republic, Yakutsk, Russian Federation)
• Fedotova E.E. (Audiology-Logopaedic Center, Republican Hospital 1- National Medical Centre, Ministry of Public Health of the Sakha Republic, Yakutsk, Russian Federation)
• Pak M.V. (Department of Pediatric, Medical Institute, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation)
• Lekhanova S.N. (Dept. of Norm. and Abnormal Anat., Operative Surgery with Topographic Anatomy and Forensic Medicine, Medical Institute, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation)
• Zakharova E.V. (Institute of Foreign Philology and Regional Studies, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation)
• Savvinova K.E. (Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Fed)
• Gotovtsev N.N. (Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Fed)
• Rafailo A.M. (Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation)
• Luginov N.V. (Department of Radiology, Republican Hospital 2- Center of Emergency Medicine, Ministry of Public Health of the Sakha Republic, Yakutsk, Russian Federation)
• Alexeev A.N. (Institute of Humanitarian Research and Indigenous Peoples of the North, Siberian Branch of the Russian Academy of Sciences, Yakutsk, Russian Federation)
• Posukh O.L. (Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation, Novosibirsk State University, Novosibirsk, Russian Federation)
• Dzhemileva L.U. (Department of Genomics, Institute of Biochemistry and Genetics, Russian Academy of Sciences, Ufa, Russian Federation)
• Khusnutdinova E.K. (Department of Genomics, Institute of Biochemistry and Genetics, Russian Academy of Sciences, Ufa, Russian Federation, Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russian Federation)
• Fedorova S.A. (Department of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russian Federation, Laboratory of Molecular Biology, Institute of Natural Sciences,)

• Scopus