Genome-wide association study identifies 7q11.22 and 7q36.3 associated with noise-induced hearing loss among Chinese population.
Genome-wide association study identifies 7q11.22 and 7q36.3 associated with noise-induced hearing loss among Chinese population.
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全基因组关联研究确定 7q11.22 和 7q36.3 与中国人群噪声性听力损失相关
DOI：
10.1111/jcmm.16094
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发表时间：
2021-01
影响因子：
5.3
通讯作者：
Zhou G
中科院分区：
文献类型：
--
作者：
Niu Y;Xie C;Du Z;Zeng J;Chen H;Jin L;Zhang Q;Yu H;Wang Y;Ping J;Yang C;Liu X;Li Y;Zhou G
噪音引起的听力损失（NIHL）严重影响了人类的生活质量，并为社会造成了巨大的经济损失。通过由53个病例和360个对照组成的复制研究，我们确定了四个候选途径与NIHL显着相关，包括ERBB，WNT，HEDGEHOG，HEDGEHOG和FLAGLAR INTRAPLAR途径。 PTPRN2内含子中的RS10081191在7q36.3处的基因（p = 2.1×10-6）与NIHL显着相关，表达定量性状基因座的分析在脑组织中，RS35075890的基因型与AUTS2的表达水平显着相关，我们的发现突出了两个新颖的位点，位于7q11.22和7q36.3对NIHL的会议敏感性。
Noise‐induced hearing loss (NIHL) seriously affects the life quality of humans and causes huge economic losses to society. To identify novel genetic loci involved in NIHL, we conducted a genome‐wide association study (GWAS) for this symptom in Chinese populations. GWAS scan was performed in 89 NIHL subjects (cases) and 209 subjects with normal hearing who have been exposed to a similar noise environment (controls), followed by a replication study consisting of 53 cases and 360 controls. We identified that four candidate pathways were nominally significantly associated with NIHL, including the Erbb, Wnt, hedgehog and intraflagellar transport pathways. In addition, two novel index single‐nucleotide polymorphisms, rs35075890 in the intron of AUTS2 gene at 7q11.22 (combined P = 1.3 × 10−6) and rs10081191 in the intron of PTPRN2 gene at 7q36.3 (combined P = 2.1 × 10−6), were significantly associated with NIHL. Furthermore, the expression quantitative trait loci analyses revealed that in brain tissues, the genotypes of rs35075890 are significantly associated with the expression levels of AUTS2, and the genotypes of rs10081191 are significantly associated with the expressions of PTPRN2 and WDR60. In conclusion, our findings highlight two novel loci at 7q11.22 and 7q36.3 conferring susceptibility to NIHL.
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影响因子：
4.5
作者：
Kancherla V;Van Naarden Braun K;Yeargin-Allsopp M
通讯作者：
Yeargin-Allsopp M
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影响因子：
3.5
作者：
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通讯作者：
Jagodzinski, P. P.