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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
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Genetic Polymorphisms in Sudden Sensorineural Hearing Loss: An Update.

Virginia Corazzi1, Andrea Ciorba1, Chiara Bianchini1

  • 1ENT & Audiology Department, 9299University Hospital of Ferrara, Ferrara, Italy.

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|August 18, 2020
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Summary

Genetic factors may contribute to sudden sensorineural hearing loss (SSNHL). Research suggests genetic polymorphisms linked to inner ear issues like oxidative stress and vascular disease could play a role in SSNHL development.

Keywords:
genetic associationgenetic polymorphismsgeneticsidiopathic sudden sensorineural hearing lossinner earmutationsudden sensorineural hearing loss

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Area of Science:

  • Genetics
  • Otolaryngology
  • Molecular Biology

Background:

  • Sudden sensorineural hearing loss (SSNHL) often lacks a clear cause, remaining idiopathic in many cases.
  • Genetic predisposition is a proposed factor in the development of SSNHL.
  • Understanding genetic links may illuminate SSNHL pathogenesis.

Purpose of the Study:

  • To explore the association between genetic polymorphisms and sudden sensorineural hearing loss (SSNHL).
  • To review current literature on genetic factors implicated in SSNHL.
  • To identify potential genetic markers for SSNHL risk and prognosis.

Main Methods:

  • Systematic literature review conducted across Medline/PubMed, EMBASE, and CINAHL databases.
  • Search performed from May 2016 to April 2020, adhering to PRISMA guidelines.
  • Analysis focused on studies investigating genetic polymorphisms and SSNHL.

Main Results:

  • Genetic susceptibility is a significant factor in SSNHL pathogenesis.
  • Identified polymorphisms relate to inner ear microvascular disease and endothelial dysfunction.
  • Other relevant polymorphisms are associated with inner ear oxidative stress and inflammation.

Conclusions:

  • Identifying a genetic profile for SSNHL could improve prognostic accuracy for idiopathic cases (ISSNHL).
  • Genetic insights may enable early prevention strategies for SSNHL.
  • Genetic findings could inform patients about inheritance patterns of hearing loss.