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Modified Experimental Conditions for Noise-Induced Hearing Loss in Mice and Assessment of Hearing Function and Outer Hair Cell Damage
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CARD8 polymorphism rs2043211 protects against noise-induced hearing loss by causing the dysfunction of CARD8 protein

Long Miao1, Boshen Wang1, Jiahui Ji1

  • 1Key Laboratory of Environmental Medicine Engineering, Ministry of Education, School of Public Health, Southeast University, Nanjing, 210009, People's Republic of China.

Environmental Science and Pollution Research International
|October 17, 2020
PubMed

Insights

The CARD8 gene's rs2043211 A allele may lower noise-induced hearing loss (NIHL) risk in Chinese populations. This genetic variation potentially reduces NIHL susceptibility through altered CARD8 protein expression.

Area of Science:

  • Genetics
  • Audiology
  • Molecular Biology

Background:

  • Inflammation plays a key role in noise-induced hearing loss (NIHL).
  • CARD8, an inflammasome component, is involved in inflammatory processes.
  • Understanding genetic factors influencing NIHL is crucial for prevention.

Purpose of the Study:

  • To investigate the association between CARD8 gene polymorphisms and NIHL risk in a Chinese population.
  • To explore the potential functional mechanisms underlying the observed genetic associations.

Main Methods:

  • Genotyping of three CARD8 SNPs (rs2043211, rs1062808, rs12459322) in 610 NIHL cases and 612 controls.
  • Bioinformatic analysis to predict SNP impacts on CARD8 structure and function.
  • Functional experiments using HEK293 cells to assess SNP effects on CARD8 protein expression via western blot.

Main Results:

  • The rs2043211 AA genotype and A allele were significantly associated with a reduced risk of NIHL.
  • A protective effect of the rs2043211 A allele was observed in males, drinkers, and individuals exposed to noise levels ≥92 dB.
  • The AGG haplotype (rs2043211-rs1062808-rs12459322) also showed a significant association with decreased NIHL risk.
  • Bioinformatics predicted rs2043211 to be deleterious, affecting CARD8 protein stability.
  • Functional assays confirmed that mutant CARD8 significantly decreased protein expression levels.

Conclusions:

  • The rs2043211 A allele may confer protection against NIHL in the Chinese population.
  • This protective effect is potentially mediated by reduced CARD8 protein expression and subsequent functional changes.
  • rs2043211 may serve as a valuable genetic biomarker for assessing NIHL susceptibility in noise-exposed workers.

Keywords:
BiomarkerCARD8In silico analysisNoise-induced hearing lossPolymorphismSusceptibility

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