A polymorphism in human estrogen-related receptor beta (ESRR) predicts audiometric temporary threshold shift

被引:15
作者
Bhatt, Ishan [1 ]
Phillips, Susan [2 ]
Richter, Scott [3 ]
Tucker, Denise [2 ]
Lundgren, Kristine [2 ]
Morehouse, Robin [4 ]
Henrich, Vincent [5 ]
机构
[1] No Arizona Univ, Commun Sci & Disorders, 5205 East Cortland Blvd,Apt 106, Flagstaff, AZ 86004 USA
[2] Univ North Carolina Greensboro, Dept Commun Sci & Disorders, Greensboro, NC USA
[3] Univ North Carolina Greensboro, Dept Math & Stat, Greensboro, NC USA
[4] Appalachian State Univ, Commun Sci & Disorders, Boone, NC 28608 USA
[5] Univ North Carolina Greensboro, Ctr Biotechnol Genom & Hlth Res, Greensboro, NC USA
关键词
Noise-induced hearing loss (NIHL); Estrogen-Related Receptor Beta (ESRR); Temporary Threshold Shift (TTS); Otoacoustic Emissions (OAE); Single Nucleotide Polymorphism (SNP); INDUCED HEARING-LOSS; PRODUCT OTOACOUSTIC EMISSION; INNER-EAR; NOISE; GENE; ASSOCIATION; SENSITIVITY; EXPOSURE; COCHLEA; LIGAND;
D O I
10.1080/14992027.2016.1192693
中图分类号
R36 [病理学]; R76 [耳鼻咽喉科学];
学科分类号
100104 ; 100213 ;
摘要
Objective: A non-synonymous single nucleotide polymorphism (rs61742642; C to T, P386S) in the ligand-binding domain of human estrogen-related receptor beta (ESRR) showed possible association to noise-induced hearing loss (NIHL) in our previous study. Design: This study was conducted to examine the effect of the ESRR rs61742642 T variant on temporary threshold shift (TTS). TTS was induced by 10minutes of exposure to audiometric narrow-band noise centered at 2000Hz. Hearing thresholds and distortion product otoacoustic emissions input output function (DP IO) at 2000, 3000, and 4000Hz were measured before and after the noise exposure. Study sample: Nineteen participants with rs61742642 CT genotype and 40 participants with rs61742642CC genotype were recruited for the study. Results: Participants with the CT genotype acquired a significantly greater TTS without convincing evidence of greater DP IO temporary level shift (DPTLS) compared to participants with the CC genotype. Conclusion: The results indicated that the ESRR polymorphism is associated with TTS. Future studies were recommended to explore molecular pathways leading to increased susceptibility to NIHL.
引用
收藏
页码:571 / 579
页数:9
相关论文
共 42 条
[1]  
American National Standards Institute (ANSI), 1999, MAX PERM AMB NOIS LE
[2]  
Auwerx J, 1999, CELL, V97, P161
[3]   A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family [J].
Ben Said, Mariem ;
Ayedi, Leila ;
Mnejja, Melek ;
Hakim, Bochra ;
Khalfallah, Ayda ;
Charfeddine, Ilhem ;
Khifagi, Chamseddine ;
Turki, Khalil ;
Ayadi, Hammadi ;
BenZina, Zeineb ;
Ghorbel, Abdelmonem ;
del Castillo, Ignacio ;
Masmoudi, Saber ;
Hmani-Aifa, Mounira .
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (06) :E535-E541
[4]   DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family [J].
Brozkova, Dana Safka ;
Lastuvkova, Jana ;
Machalova, Eliska ;
Lisonova, Jana ;
Trkova, Marie ;
Seeman, Pavel .
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2012, 76 (11) :1681-1684
[5]   Estrogen-related receptor β/NR3B2 controls EDithelial cell fate and endolymph production by the stria vascularis [J].
Chen, Jichao ;
Nathans, Jeremy .
DEVELOPMENTAL CELL, 2007, 13 (03) :325-337
[6]   USE OF OTOACOUSTIC EMISSIONS TO EXPLORE THE MEDIAL OLIVOCOCHLEAR SYSTEM IN HUMANS [J].
COLLET, L .
BRITISH JOURNAL OF AUDIOLOGY, 1993, 27 (02) :155-159
[7]   Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35 [J].
Collin, Rob W. J. ;
Kalay, Ersan ;
Tariq, Muhammad ;
Peters, Theo ;
van der Zwaag, Bert ;
Venselaar, Hanka ;
Oostrik, Jaap ;
Lee, Kwanghyuk ;
Ahmed, Zubair M. ;
Caylan, Refik ;
Li, Yun ;
Spierenburg, Henk A. ;
Eyupoglu, Erol ;
Heister, Angelien ;
Riazuddin, Saima ;
Bahat, Elif ;
Ansar, Muhammad ;
Arslan, Selcuk ;
Wollnik, Bernd ;
Brunner, Han G. ;
Cremers, Cor W. R. J. ;
Karaguzel, Ahmet ;
Ahmad, Wasim ;
Cremers, Frans P. M. ;
Vriend, Gert ;
Friedman, Thomas B. ;
Riazuddin, Sheikh ;
Leal, Suzanne M. ;
Kremer, Hannie .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :125-138
[8]  
Craig J., 2008, NAT ED, V1, P1
[9]  
Dirks D D, 1996, J Am Acad Audiol, V7, P31
[10]   Effects of industrial noise exposure on distortion product otoacoustic emissions (DPOAEs) and hair cell loss of the cochlea - long term experiments in awake guinea pigs [J].
Emmerich, E ;
Richter, F ;
Reinhold, U ;
Linss, V ;
Linss, W .
HEARING RESEARCH, 2000, 148 (1-2) :9-17