Literature DB >> 17513527

Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.

E Van Eyken1, G Van Camp, E Fransen, V Topsakal, J J Hendrickx, K Demeester, P Van de Heyning, E Mäki-Torkko, S Hannula, M Sorri, M Jensen, A Parving, M Bille, M Baur, M Pfister, A Bonaconsa, M Mazzoli, E Orzan, A Espeso, D Stephens, K Verbruggen, J Huyghe, I Dhooge, P Huygen, H Kremer, C W R J Cremers, S Kunst, M Manninen, I Pyykkö, A Lacava, M Steffens, T F Wienker, L Van Laer.   

Abstract

BACKGROUND: Age-related hearing impairment (ARHI) is the most common sensory impairment in older people, affecting 50% of those aged 80 years. The proportion of older people is increasing in the general population, and as a consequence, the number of people affected with ARHI is growing. ARHI is a complex disorder, with both environmental and genetic factors contributing to the disease. The first studies to elucidate these genetic factors were recently performed, resulting in the identification of the first two susceptibility genes for ARHI, NAT2 and KCNQ4.
METHODS: In the present study, the association between ARHI and polymorphisms in genes that contribute to the defence against reactive oxygen species, including GSTT1, GSTM1 and NAT2, was tested. Samples originated from seven different countries and were combined into two test population samples, the general European population and the Finnish population. Two distinct phenotypes for ARHI were studied, Z(low) and Z(high), representing hearing in the low and high frequencies, respectively. Statistical analysis was performed for single polymorphisms (GSTM1, GSTT1, NAT2*5A, NAT2*6A, and NAT2*7A), haplotypes, and gene-environment and gene-gene interactions.
RESULTS: We found an association between ARHI and GSTT1 and GSTM1 in the Finnish population sample, and with NAT2*6A in the general European population sample. The latter finding replicates previously published data.
CONCLUSION: As replication is considered the ultimate proof of true associations in the study of complex disorders, this study provides further support for the involvement of NAT2*6A in ARHI.

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Year:  2007        PMID: 17513527      PMCID: PMC2597944          DOI: 10.1136/jmg.2007.049205

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  56 in total

Review 1.  Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms.

Authors:  D W Hein; M A Doll; A J Fretland; M A Leff; S J Webb; G H Xiao; U S Devanaboyina; N A Nangju; Y Feng
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2000-01       Impact factor: 4.254

2.  GRR: graphical representation of relationship errors.

Authors:  G R Abecasis; S S Cherny; W O Cookson; L R Cardon
Journal:  Bioinformatics       Date:  2001-08       Impact factor: 6.937

3.  Association studies for quantitative traits in structured populations.

Authors:  Silviu-Alin Bacanu; Bernie Devlin; Kathryn Roeder
Journal:  Genet Epidemiol       Date:  2002-01       Impact factor: 2.135

4.  Differential vulnerability of basal and apical hair cells is based on intrinsic susceptibility to free radicals.

Authors:  S H Sha; R Taylor; A Forge; J Schacht
Journal:  Hear Res       Date:  2001-05       Impact factor: 3.208

5.  Metabolic gene polymorphism frequencies in control populations.

Authors:  S Garte; L Gaspari; A K Alexandrie; C Ambrosone; H Autrup; J L Autrup; H Baranova; L Bathum; S Benhamou; P Boffetta; C Bouchardy; K Breskvar; J Brockmoller; I Cascorbi; M L Clapper; C Coutelle; A Daly; M Dell'Omo; V Dolzan; C M Dresler; A Fryer; A Haugen; D W Hein; A Hildesheim; A Hirvonen; L L Hsieh; M Ingelman-Sundberg; I Kalina; D Kang; M Kihara; C Kiyohara; P Kremers; P Lazarus; L Le Marchand; M C Lechner; E M van Lieshout; S London; J J Manni; C M Maugard; S Morita; V Nazar-Stewart; K Noda; Y Oda; F F Parl; R Pastorelli; I Persson; W H Peters; A Rannug; T Rebbeck; A Risch; L Roelandt; M Romkes; D Ryberg; J Salagovic; B Schoket; J Seidegard; P G Shields; E Sim; D Sinnet; R C Strange; I Stücker; H Sugimura; J To-Figueras; P Vineis; M C Yu; E Taioli
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2001-12       Impact factor: 4.254

Review 6.  Effects of dietary restriction and antioxidants on presbyacusis.

Authors:  M D Seidman
Journal:  Laryngoscope       Date:  2000-05       Impact factor: 3.325

7.  Characterization of the glutathione S-transferase GSTT1 deletion: discrimination of all genotypes by polymerase chain reaction indicates a trimodular genotype-phenotype correlation.

Authors:  R Sprenger; R Schlagenhaufer; R Kerb; C Bruhn; J Brockmöller; I Roots; U Brinkmann
Journal:  Pharmacogenetics       Date:  2000-08

Review 8.  Free radicals and hearing. Cause, consequence, and criteria.

Authors:  P Evans; B Halliwell
Journal:  Ann N Y Acad Sci       Date:  1999-11-28       Impact factor: 5.691

Review 9.  Excitotoxicity, synaptic repair, and functional recovery in the mammalian cochlea: a review of recent findings.

Authors:  R Pujol; J L Puel
Journal:  Ann N Y Acad Sci       Date:  1999-11-28       Impact factor: 5.691

10.  Various glutathione S-transferase isoforms in the rat cochlea.

Authors:  Y Takumi; A Matsubara; S Tsuchida; O P Ottersen; H Shinkawa; S Usami
Journal:  Neuroreport       Date:  2001-05-25       Impact factor: 1.837

View more
  35 in total

1.  Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Authors:  Zubair M Ahmed; Rizwan Yousaf; Byung Cheon Lee; Shaheen N Khan; Sue Lee; Kwanghyuk Lee; Tayyab Husnain; Atteeq Ur Rehman; Sarah Bonneux; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal; Vadim N Gladyshev; Inna A Belyantseva; Guy Van Camp; Sheikh Riazuddin; Thomas B Friedman; Saima Riazuddin
Journal:  Am J Hum Genet       Date:  2010-12-23       Impact factor: 11.025

Review 2.  Deafness in the genomics era.

Authors:  A Eliot Shearer; Michael S Hildebrand; Christina M Sloan; Richard J H Smith
Journal:  Hear Res       Date:  2011-10-08       Impact factor: 3.208

3.  The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population.

Authors:  Huajie Luo; Hao Wu; Hailian Shen; Haifeng Chen; Tao Yang; Zhiwu Huang; Xiaojie Jin; Xiuhong Pang; Lei Li; Xianting Hu; Xuemei Jiang; Zhuping Fan; Jiping Li
Journal:  Eur Arch Otorhinolaryngol       Date:  2015-07-18       Impact factor: 2.503

4.  Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.

Authors:  A M Voets; B J C van den Bosch; A P Stassen; A T Hendrickx; D M Hellebrekers; L Van Laer; E Van Eyken; G Van Camp; A Pyle; S V Baudouin; P F Chinnery; H J M Smeets
Journal:  Mitochondrion       Date:  2011-09-17       Impact factor: 4.160

Review 5.  At the interface of sensory and motor dysfunctions and Alzheimer's disease.

Authors:  Mark W Albers; Grover C Gilmore; Jeffrey Kaye; Claire Murphy; Arthur Wingfield; David A Bennett; Adam L Boxer; Aron S Buchman; Karen J Cruickshanks; Davangere P Devanand; Charles J Duffy; Christine M Gall; George A Gates; Ann-Charlotte Granholm; Takao Hensch; Roee Holtzer; Bradley T Hyman; Frank R Lin; Ann C McKee; John C Morris; Ronald C Petersen; Lisa C Silbert; Robert G Struble; John Q Trojanowski; Joe Verghese; Donald A Wilson; Shunbin Xu; Li I Zhang
Journal:  Alzheimers Dement       Date:  2014-07-09       Impact factor: 21.566

6.  Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.

Authors:  Sophie Boucher; Fabienne Wong Jun Tai; Sedigheh Delmaghani; Andrea Lelli; Amrit Singh-Estivalet; Typhaine Dupont; Magali Niasme-Grare; Vincent Michel; Nicolas Wolff; Amel Bahloul; Yosra Bouyacoub; Didier Bouccara; Bernard Fraysse; Olivier Deguine; Lionel Collet; Hung Thai-Van; Eugen Ionescu; Jean-Louis Kemeny; Fabrice Giraudet; Jean-Pierre Lavieille; Arnaud Devèze; Anne-Laure Roudevitch-Pujol; Christophe Vincent; Christian Renard; Valérie Franco-Vidal; Claire Thibult-Apt; Vincent Darrouzet; Eric Bizaguet; Arnaud Coez; Hugues Aschard; Nicolas Michalski; Gaëlle M Lefevre; Anne Aubois; Paul Avan; Crystel Bonnet; Christine Petit
Journal:  Proc Natl Acad Sci U S A       Date:  2020-11-23       Impact factor: 11.205

Review 7.  Inheritance patterns of progressive hearing loss in laboratory strains of mice.

Authors:  Konrad Noben-Trauth; Kenneth R Johnson
Journal:  Brain Res       Date:  2009-02-21       Impact factor: 3.252

Review 8.  Human hereditary hearing impairment: mouse models can help to solve the puzzle.

Authors:  Karen Vrijens; Lut Van Laer; Guy Van Camp
Journal:  Hum Genet       Date:  2008-09-11       Impact factor: 4.132

9.  GRM7 variants confer susceptibility to age-related hearing impairment.

Authors:  Rick A Friedman; Lut Van Laer; Matthew J Huentelman; Sonal S Sheth; Els Van Eyken; Jason J Corneveaux; Waibhav D Tembe; Rebecca F Halperin; Ashley Q Thorburn; Sofie Thys; Sarah Bonneux; Erik Fransen; Jeroen Huyghe; Ilmari Pyykkö; Cor W R J Cremers; Hannie Kremer; Ingeborg Dhooge; Dafydd Stephens; Eva Orzan; Markus Pfister; Michael Bille; Agnete Parving; Martti Sorri; Paul H Van de Heyning; Linna Makmura; Jeffrey D Ohmen; Frederick H Linthicum; Jose N Fayad; John V Pearson; David W Craig; Dietrich A Stephan; Guy Van Camp
Journal:  Hum Mol Genet       Date:  2008-12-01       Impact factor: 6.150

10.  [Influence of exogenic factors on age-related hearing impairment].

Authors:  M Baur; E Fransen; A Tropitzsch; L van Laer; P S Mauz; G Van Camp; N Blin; M Pfister
Journal:  HNO       Date:  2009-10       Impact factor: 1.284

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