老年性聋遗传易感性候选基因
朱玉华;袁慧军;戴朴;翟所强;
1:解放军总医院耳鼻咽喉科研究所
1Chang HP,Chou P.Presbycusis among older Chinese people in Taipei,Tai wan:Acommunity-based study[J].Int J Au-diol,2007,46:738.
2Dalton DS,Cruickshanks KJ,Klein BE,et al.The i mpact of hearing loss on quality of life in older adults[J].Gerontolo-gist,2003,43:661.
3Viljanen A,Era P,Kaprio J,et al.Genetic and environmental influences on hearingin older women[J].J Gerontol ABiol Sci Med Sci,2007,62:447.
4Christensen K,Frederiksen H,Hoff man HJ,et al.Genetic and environmental influences on self-reported reduced hearing in the old and oldest old[J].J Am Geriatr Soc,2001,49:1512.
5Gates GA,Couropmitree NN,Myers RH,et al.Genetic asso-ciationsin age-related hearing thresholds[J].Arch Otolaryn-gol Head Neck Surg,1999,125:654.
6Dobie RA.The relative contributions of occupational noise and aginginindividual cases of hearing loss[J].Ear Hear,1992,13:19.
7Mills J H,Matthews LJ,Lee FS,et al.Gender-specific effects of drugs on hearinglevels of older persons.Ann[J].NY Acad Sci,1999,884:381.
8Kurien M,Thomas K,Bhanu TS,et al.Hearing threshold in patients with diabetes mellitus[J].J Laryngol Otol,1989,103:164.
9Gates GA,Cobb JL,D'Agostino RB,et al.The relation of hearingin the elderly to the presence of cardiovascular disease and cardiovascular risk factors[J].Arch Otolaryngol Head Neck Surg,1993,119:156.
10Tepass U,Truong K,Godt D,et al.Cadherins in embryonic and neural morphogenesis[J].Nat Rev Mol Cell Biol,2000,1:91.
11Di PF,Hol me RH,Bryda EC,et al.Mutationsin Cdh23,en-coding a newtype of cadherin,cause stereocilia disorganiza-tion in waltzer,the mouse model for Usher syndrome type1D[J].Nat Genet,2001,27:103.
12Siemen J,Lillo C,Dumont RA,et al.Cadherin23is a compo-nent of the tiplinkin hair-cell stereocilia[J].Nature,2004,428:950.
13Astuto LM,Bork J M,Weston MD,et al.CDH23mutation and phenotype heterogeneity:a profile of107diverse families with Usher syndrome and nonsyndromic deafness[J].Am J Hum Genet,2002,71:262.
14Noben-Trauth K,Zheng QY,Johnson KR,et al.Associa-tion of cadherin23with polygenic inheritance and genetic modification of sensorineural hearing loss[J].Nat Genet,2003,35:21.
15Davis RR,Kozel P,Erway LC.Genetic influences inindivid-ual susceptibility to noise:a review[J].Noise Health,2003,5:19.
16Johnson KR,Zheng QY,Erway LC,et al.A major gene af-fecting age-related hearinglossis common to at least tenin-bred strains of mice[J].Genomics,2000,70:171.
17Bolz H,von Brederlow B,Ramirez A,et al.Mutation of CDH23,encoding a new member of the cadherin gene family,causes Usher syndrome type1D[J].Nat Genet,2001,27:108.
18Kubisch C,Schroeder BC,Friedrich T,et al.KCNQ4,a no-vel potassiumchannel expressedin sensory outer hair cells,is mutatedin dominant deafness[J].Cell,1999,96:437.
19Kharkovets T,Hardelin JP,Safieddine S,et al.KCNQ4,a K1channel mutated in a form of dominant deafness,is ex-pressedin the inner ear and the central auditory pathway[J].Proc Natl Acad Sci USA,2000,97:4333.
20Kharkovets T,Dedek K,Maier H,et al.Mice with altered KCNQ4K1channels i mplicate sensory outer hair cells in hu-man progressive deafness[J].EMBOJ,2006,25:642.
21Coucke PJ,Van Hauwe P,Kelley PM,et al.Mutationsinthe KCNQ4gene are responsible for autosomal dominant deafness in four DFNA2families[J].Hum Mol Genet,1999,8:1321.
22Van Eyken E,Van Laer L,Fransen E,et al.KCNQ4:a gene for age-related hearingi mpairment?[J].Hum Mutat,2006,27:1007.
23Lefebvre PP,Van De Water TR.Connexins,hearing and deafness:clinical aspects of mutationsinthe connexin26gene[J].Brain Res Brain Res Rev,2000,32:159.
24Kikuchi T,Ki mura RS,Paul DL,et al.Gapjunction systems in the mammalian cochlea[J].Brain Res Brain Res Rev,2000,32:163.
25Gasparini P,Rabionet R,Barbujani G.High carrier frequen-cy of the35del G deafness mutation in European populations[J].European Journal of Human Genetics,2000,8:19.
26Liu XZ,Xia XJ,Ke XM,et al.The prevalence of connexin26(GJB2)mutations in the Chinese population[J].Hum Gen-et,2002,11:394.
27Kelsell DP,Dunlop J,Stevens HP,et al.Connexin26muta-tions in hereditary non-syndromic sensorineural deafness[J].Nature,1997,387:80.
28肖自安,冯永,潘乾,等.非综合征性耳聋患者连接蛋白26基因突变的研究[J].中华耳鼻咽喉科杂志,2000,35:188.
29Murgia A,Orzan E,Polli R,et al.Cx26deafness:mutation analysis and clinical variability[J].J Med Genet,1999,36:829.
30Van Eyken E,Van Laer L,Fransen E,et al.The Contribution of GJB2(Connexin26)35del G to age-related hearing i m-pairment and noise-induced hearing loss[J].Otology&Neurotology,2007,28:970.
31Van Laer L,Van Eyken E,Fransen E,et al.The grainyhead like2gene(GRHL2),alias TFCP2L3,is associated with age-related hearing i mpairment[J].Human Molecular Genet-ics,2008,17:159.
32Wilanowski T,Tuckfield A,Cerruti L,et al.A highly con-served novel family of mammalian developmental transcription factors related to Drosophila grainyhead[J].Mech Dev,2002,114:37.
33Ting SB,Wilanowski T,Cerruti L,et al.The identification and characterization of human Sister-of-MammalianGrainyhead(SOM)expands the grainyhead-like family of developmental transcription factors[J].Biochem J,2003,370:953.
34Auden A,Caddy J,Wilanowski T,et al.Spatial and temporal expression of the Grainyhead-like transcriptionfactor family during murine development[J].Gene Expr Patterns,2006,6:964.
35Seidman MD,Bai U,Khan MJ,et al.Association of mito-chondrial DNAdeletions and cochlear pathology:a molecular biologic tool[J].Laryngoscope,1996,106:777.
36Seidman MD,Khan MJ,Dolan D,et al.Age-related differ-ences in cochlear microcirculation and auditory brain stemre-sponse[J].Arch Otolaryngol Head Neck Surg,1996,122:1221.
37韩维举,韩东一,姜泗长,等.人听觉器官线粒体DNA4977缺失与老年聋的关系[J].中华耳鼻咽喉科杂志,2000,35:416.
38Dai P,Yang W,Jiang S,et al.Correlation of cochlear blood supply with mitochondrial DNA common deletion in presby-acusis[J].Acta Otolaryngol,2004,124:130.
39Unal M,Tamer L,Dogruer ZN,et al.N-Acetyltransferase2Gene Polymorphism and Presbycusis[J].Laryngoscope,2005,115:2238.
40Mannervik B,Awasthi YC,Board PG,et al.Nomenclature for human glutathione transferases[J].Biochem J,1992,282:305.
41Strange RC,Spiteri MA,Ramachandran S,et al.Glutathione-S-transferase family of enzymes[J].Mutat Res,2001,482:21.
42Pemble S,Schroeder KR,Spencer SR,et al.Human gluta-thione S-transferase theta(GSTT1):cDNAcloning and the characterization of a genetic polymorphism[J].Biochem J,1994,300:271.
43Rabinowitz PM,Pierce Wise JS,Hur Mobo B,et al.Antioxi-dant status and hearing function in noise-exposed workers[J].Hear Res,2002,173:164.
44Mc Fadden SL,Ohlemiller KK,Ding D,et al.Theinfluence of superoxide dismutase and glutathione peroxidase deficiencies on noise-induced hearing loss in mice[J].Noise Health,2001,3:49.
45Fortunato G,Marrilli F,Zarrilli F,et al.Paraoxonase and su-peroxide dismutase gene polymorphisms and noise-induced hearing loss[J].Clin Chem,2004,50:2012.
46Ohlemiller KK,Mc Fadden SL,Ding DL,et al.Targeted mu-tation of the gene for cellular glutathione peroxidase(Gpx1)increases noise-induced hearing loss in mice[J].Assoc Res Otolaryngol,2000,1:243.