Open AccessGenome‐wide association study identifies 7q11.22 and 7q36.3 associated with noise‐induced hearing loss among Chinese population
Author(s) -
Niu Yuguang,
Xie Chengyong,
Du Zhenhua,
Zeng Jifeng,
Chen Hongxia,
Jin Liang,
Zhang Qing,
Yu Huiying,
Wang Yahui,
Ping Jie,
Yang Chenning,
Liu Xinyi,
Li Yuanfeng,
Zhou Gangqiao
Publication year - 2021
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.16094
Subject(s) - noise induced hearing loss , biology , genetics , single nucleotide polymorphism , genome wide association study , hearing loss , quantitative trait locus , genotype , genetic association , gene , snp , locus (genetics) , candidate gene , medicine , noise exposure , audiology
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.