Genetic variation in KCNQ4 gene is associated with susceptibility to noise-induced hearing loss in a Chinese population

Guo, Han; Ding, Enmin; Sheng, Rongjian; Cheng, Jian; Cai, Wenyan; Guo, Jiadi; Wang, Ning; Zhang, Hengdong; Zhu, Baoli

doi:10.1016/j.etap.2018.08.009

Cited by 16 publications

(13 citation statements)

References 22 publications

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“…Both hereditary and noise-induced hearing loss are associated with declined cell surface expression and damaged potassium channels in outer hair cells [26]. One genetic variant, c.777T>C in KCNQ4, results in a higher risk of noise-induced hearing loss for noise-exposed Chinese workers [27]. Our findings were consistent with a previous study which showed that the KCNQ4 gene is likely related to the complex interactions between age, environmental noise, and hearing loss.…”

Section: Discussionsupporting

confidence: 90%

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population

Yen

Chen

Hua

et al. 2021

Genes

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Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variants of KCNQ4 gene is a common genetic factor of ADNSHL. Few studies have investigated the association between hearing impairment and the variant c.546C>G of KCNQ4. Here, we investigated the phenotype and clinical manifestations of the KCNQ4 variant. Study subjects were selected from the participants of the Taiwan Precision Medicine Initiative. In total, we enrolled 12 individuals with KCNQ4 c.546C>G carriers and 107 non-carriers, and performed pure tone audiometry (PTA) test and phenome-wide association (PheWAS) analysis for the patients. We found that c.546C>G variant was related to an increased risk of hearing loss. All patients with c.546C>G variant were aged >65 years and had sensorineural and high frequency hearing loss. Of these patients, a third (66.7%) showed moderate and progressive hearing loss, 41.7% complained of tinnitus and 16.7% complained of vertigo. Additionally, we found a significant association between KCNQ4 c.546C>G variant, aortic aneurysm, fracture of lower limb and polyneuropathy in diabetes. KCNQ4 c.546C>G is likely a potentially pathogenic variant of ADNSHL in the elderly population. Genetic counseling, annual audiogram and early assistive listening device intervention are highly recommended to prevent profound hearing impairment in this patient group.

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Section: Discussionsupporting

confidence: 90%

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population

Yen

Chen

Hua

et al. 2021

Genes

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“…There are four theories about the mechanism of NIHL: oxidative stress theory, Ca 2 + overload theory, immune in ammation theory, and vascular theory. Previous studies have found that KCNQ4 [29], HSP70 [30], FOXO3 [31], Notch [32] are associated with NIHL. Most of the physiological processes involved in these genes belong to only one of these four theories.…”

Section: Discussionmentioning

confidence: 90%

Association of STAT3 Gene Polymorphism With Noise-induced Hearing Loss(NIHL) in the Chinese Population

Gao

Wang

Sun³

et al. 2020

Preprint

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Objectives NIHL is a disease with irreversible damage caused by multi-factor interaction, and the STAT3 is an essential protein with signal transduction and transcription functions. This study is aimed to explore the effect of STAT3 polymorphism on individual susceptibility to NIHL individuals, and to further examine the interaction between lifestyles and NIHL in the dominant model . Methods This study was designed a case-control study and included 609 NIHL cases and 611 healthy hearing controls from the Jiangsu province of China. By collecting the lifestyle and demographic information of the study participants, genotyping the collected blood samples, and performing Real-time Quantitative PCR (qRT-PCR) to analyze and investigate the potential association between STAT3 SNPs and NIHL. Results Statistical analysis results show that individuals carrying the C allele of rs1053023 and rs1053005 were more likely to develop NIHL than individuals carrying the T allele (OR = 1.367, 95% CI = 1.148–1.628, P = 0.0001 and OR = 1.37, 95% CI = 1.147–1.636, P = 0.001). In the dominant model (TC/CC genotype and TT genotype), stratified analysis of lifestyle, we found that people who smoke regularly are more likely to suffer from NIHL than non-smokers or occasional smokers. Besides, the expression of STAT3 was higher in NIHL cases by real-time quantitative PCR. Conclusion Gene polymorphisms, rs1053023 and rs1053005, from STAT3, are associated with NIHL and C alleles of rs1053023 and rs1053005 within STAT3 may become biomarkers for workers exposed to noise.

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“…Guo H ve arkadaşları, 571 GBİK vakası ve 639 normal işitmeye sahip kontrollerden oluşan genetik assosiasyon çalışmasıyla gürültüye maruz kalan yaklaşık 2700 Çinli işçide KCNQ4 polimorfizminin GBİK'daki bireysel duyarlılıkla ilişkili olup olmadığını araştırmışlardır. Elde edilen sonuçlar, rs4660468 T KCNQ4 alelinde GBİK riskinin daha yüksek olduğunu ve gürültüye maruz kalan Çinli işçilerde duyarlılığın bir biyobelirteç olabileceğini göstermektedir (29).…”

Section: öZetunclassified

Meslek Hastaliklariyla İli̇şki̇li̇ Geneti̇k Poli̇morfi̇zmleri̇n Moleküler Mekani̇zmalari

Öztan¹,

İşsever²

2020

J Istanb Fac Med

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Genetic variation in KCNQ4 gene is associated with susceptibility to noise-induced hearing loss in a Chinese population

Cited by 16 publications

References 22 publications

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population

Association of STAT3 Gene Polymorphism With Noise-induced Hearing Loss(NIHL) in the Chinese Population

Meslek Hastaliklariyla İli̇şki̇li̇ Geneti̇k Poli̇morfi̇zmleri̇n Moleküler Mekani̇zmalari

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