The search of a genetic basis for noise-induced hearing loss (NIHL)


Autoria(s): ABREU-SILVA, Ronaldo Serafim; RINCON, Daniel; HORIMOTO, Andrea Roseli Vancan Russo; SGUILLAR, Ary Papa; RICARDO, Luiz Artur Costa; KIMURA, Lilian; BATISSOCO, Ana Carla; AURICCHIO, Maria Teresa Balester De Mello; OTTO, Paulo Alberto; MINGRONI-NETTO, Regina Celia
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

20/10/2012

20/10/2012

2011

Resumo

Background and aim: Knowledge about the genetic factors responsible for noise-induced hearing loss (NIHL) is still limited. This study investigated whether genetic factors are associated or not to susceptibility to NIHL. Subjects and methods: The family history and genotypes were studied for candidate genes in 107 individuals with NIHL, 44 with other causes of hearing impairment and 104 controls. Mutations frequently found among deaf individuals were investigated (35delG, 167delT in GJB2, Delta(GJB6- D13S1830), Delta(GJB6- D13S1854) in GJB6 and A1555G in MT-RNR1 genes); allelic and genotypic frequencies were also determined at the SNP rs877098 in DFNB1, of deletions of GSTM1 and GSTT1 and sequence variants in both MTRNR1 and MTTS1 genes, as well as mitochondrial haplogroups. Results: When those with NIHL were compared with the control group, a significant increase was detected in the number of relatives affected by hearing impairment, of the genotype corresponding to the presence of both GSTM1 and GSTT1 enzymes and of cases with mitochondrial haplogroup L1. Conclusion: The findings suggest effects of familial history of hearing loss, of GSTT1 and GSTM1 enzymes and of mitochondrial haplogroup L1 on the risk of NIHL. This study also described novel sequence variants of MTRNR1 and MTTS1 genes.

Identificador

ANNALS OF HUMAN BIOLOGY, v.38, n.2, p.210-218, 2011

0301-4460

http://producao.usp.br/handle/BDPI/27479

10.3109/03014460.2010.513774

http://dx.doi.org/10.3109/03014460.2010.513774

Idioma(s)

eng

Publicador

INFORMA HEALTHCARE

Relação

Annals of Human Biology

Direitos

closedAccess

Copyright INFORMA HEALTHCARE

Palavras-Chave #Genetic susceptibility #deafness genes #mitochondrial mutations #mitochondrial haplogroups #12S RIBOSOMAL-RNA #MITOCHONDRIAL TRNA(SER(UCN)) GENE #GLUTATHIONE-S-TRANSFERASE #POINT MUTATION #SENSORINEURAL DEAFNESS #A1555G MUTATION #PEDIATRIC SUBJECTS #CARRIER FREQUENCY #GJB2 CONNEXIN-26 #OXIDATIVE STRESS #Biology #Public, Environmental & Occupational Health
Tipo

article

original article

publishedVersion