噪声性耳聋相关基因SNP的人群遗传相关研究进展

噪声性耳聋（noise-induced hearing loss,NIHL）是由遗传因素和环境因素共同作用引起的病因复杂的职业性疾病。过去10年间有大量的易感相关研究尝试去寻找对人类NIHL起作用的基因。它是基于候选基因进行研究的,主要包括氧化应激基因群、内耳钾循环途径的基因、单基因遗传性耳聋基因和其他基因。到目前为止,最有前景的研究是获得了两个编码钾离子循环通道的基因（KCNQ4和KCNE1）、过氧化氢酶基因（CAT）、原钙粘附蛋白基因（PCDH15）,肌球蛋白基因（MYH14）和热激蛋白基因（HSP70）。因为,它们在2个（波兰和瑞士）或者3个（波兰,瑞士和中国人）人群中复制,并且有足够的大样本检测并确定致病基因。如今,随着高通量基因分型方法的发展能够检测成百上千个线性排列的单核苷酸多态性（single nucleotide polymorphisms,SNPs）,这将使新的NIHL易感性基因鉴定成为可能。通过这些关联研究将促进遗传测试的发展,从而有助于保护暴露在噪声环境下的个体并展开个性化治疗。

Progress in the association studies on susceptibility gene SNP for NIHL in human population

NIHL（Noise-induced hearing loss）is a kind of complex disease that results from the interaction of genetic and environmental factors. There has been a great increase in association studies trying to identify the susceptibility genes for NIHL in humans over the last 10 years. It is based on the candidate gene and comprised mainly the group of oxidative stress genes,inner ear potassium recycling pathway genes and monogenic deafness genes,also other genes. Until recently,the most promising results are obtained from two genes encoding potassium ion channels（ KCNQ4 and KCNE1）,catalase（ CAT）,protocadherin 15（ PCDH15）,myosin 14（MYH14） and heat shock protein（HSP70）. They were replicated in 2 population（Polish and Swedish） or 3 population（Polish,Swedish and Chinese）,and the samples are large enough（in size） to obtain the identification of a causative allele. Nowadays,hundreds and thousands of SNPs（single nucleotide polymorphisms）in a single array can be detected with the development of high-throughput genotyping methods,which makes identification of new NIHL susceptibility genes possible. These association studies will help to the development of genetics tests,which would provide better protection for noise-exposed individuals and launching personalized treatment for patients.