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Genome-wide association study identifies 7q11.22 and 7q36.3 associated with noise-induced hearing loss among Chinese population |
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| Authors: | Yuguang Niu Chengyong Xie Zhenhua Du Jifeng Zeng Hongxia Chen Liang Jin Qing Zhang Huiying Yu Yahui Wang Jie Ping Chenning Yang Xinyi Liu Yuanfeng Li Gangqiao Zhou |
| Institution: | 1. Department of Otolaryngology, the First Medical Center of PLA General Hospital, Beijing, China
Contribution: Conceptualization (equal);2. Medical College of Guizhou University, Guiyang city, China;3. State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, China Contribution: Data curation (supporting);4. Department of Otolaryngology, the No. 954 Hospital of PLA, Shannan City, China Contribution: Project administration (supporting);5. State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, China Contribution: Funding acquisition (supporting);6. State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, China Contribution: Formal analysis (supporting);7. Collaborative Innovation Center for Personalized Cancer Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing City, China Contribution: Data curation (supporting);8. Outpatient Department, the Fifth Medical Center of PLA General Hospital, Beijing, China Contribution: Data curation (supporting);9. State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, China Contribution: Writing - review & editing (supporting);10. State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, China Contribution: Writing - original draft (supporting), Writing - review & editing (supporting);11. State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, China |
| Abstract: | 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. |
| Keywords: | AUTS2 genome-wide association study noise-induced hearing loss PTPRN2 WDR60 |