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

被引:36
作者
Abreu-Silva, Ronaldo Serafim [1 ]
Rincon, Daniel [1 ]
Vancan Russo Horimoto, Andrea Roseli [1 ]
Sguillar, Ary Papa [2 ]
Costa Ricardo, Luiz Artur [3 ]
Kimura, Lilian [1 ]
Batissoco, Ana Carla [1 ]
Balester De Mello Auricchio, Maria Teresa [1 ]
Otto, Paulo Alberto [1 ]
Mingroni-Netto, Regina Celia [1 ]
机构
[1] Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, Ctr Estudos Genoma Humano, Sao Paulo, Brazil
[2] Imprensa Oficial, Sao Paulo, Brazil
[3] Sindicato Motoristas & Trabalhadores Transporte R, Sao Paulo, Brazil
关键词
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;
D O I
10.3109/03014460.2010.513774
中图分类号
Q98 [人类学];
学科分类号
030303 ;
摘要
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.
引用
收藏
页码:210 / 218
页数:9
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