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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

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Published on: January 25, 2016

Expression and replication studies to identify new candidate genes involved in normal hearing function.

Giorgia Girotto¹, Dragana Vuckovic¹, Annalisa Buniello²

¹Department of Medical Sciences, University of Trieste, Trieste, Italy.

|January 24, 2014

Summary

This summary is machine-generated.

Researchers identified nine genes associated with normal hearing variation using a multi-step approach. Seven genes showed genotype-phenotype relationships, offering new targets for hearing impairment treatments.

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Area of Science:

Genetics
Auditory Science
Molecular Biology

Background:

Identifying genes for deafness is advancing, but the genetic basis of normal hearing variation remains largely unknown.
Previous Genome-Wide Association Studies (GWAS) identified suggestive but not significant single nucleotide polymorphisms (SNPs) for quantitative hearing traits.

Purpose of the Study:

To investigate genuine associations between previously identified SNPs and auditory function.
To explore the role of specific genes in the inner ear and their correlation with hearing ability.

Main Methods:

Generated a shortlist of 19 genes from GWAS results.
Performed immunocytochemistry to analyze gene expression in the mouse inner ear.
Replicated association testing in independent populations and analyzed genotype-phenotype relationships using audiometric profiles.

Main Results:

Twelve of the 19 genes exhibited distinct cochlear expression patterns, with four localized to sensory hair cells.
Nine genes showed nominally significant associations in replication samples; seven demonstrated genotype-phenotype correlations.
Seven genes (CDH13, GRM8, ANK2, SLC16A6, ARSG, RIMBP2, DCLK1) showed audiometric differences between genotypes.

Conclusions:

This multi-step approach effectively identifies genes contributing to normal hearing variation.
The identified genes, particularly CDH13, GRM8, ANK2, SLC16A6, ARSG, RIMBP2, and DCLK1, offer potential molecular targets for preventing and treating hearing impairment.