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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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Related Experiment Video

Updated: Jul 10, 2025

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 25, 2016

Lipids and sudden sensorineural hearing loss: A bidirectional two-sample Mendelian randomization analysis.

Kunlin Pu¹, Li Li¹, Yan Qiu²

¹Department of Otorhinolaryngology, Pengzhou Hospital of Traditional Chinese Medicine, Chengdu, Sichuan, China.

Auris, Nasus, Larynx

|November 22, 2023

Summary

Lowering high-density lipoprotein cholesterol (HDL-C) may reduce the risk of sudden sensorineural hearing loss (SSNHL). This Mendelian randomization study suggests HDL-C is an independent risk factor for SSNHL, highlighting the importance of lipid management.

Keywords:

Lipids Mendelian randomization Sudden sensorineural hearing loss

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genetics
Epidemiology
Otolaryngology

Background:

Observational studies suggest a link between lipid profiles and Sudden Sensorineural Hearing Loss (SSNHL).
The causal relationship between dyslipidemia and SSNHL remains unclear.
Mendelian randomization (MR) offers a robust method to investigate causality using genetic variants.

Purpose of the Study:

To determine if lipid levels are a causal risk factor for SSNHL.
To investigate the potential causal association between specific lipids (HDL-C, LDL-C, TG) and SSNHL.
To leverage Mendelian randomization analysis for robust causal inference.

Main Methods:

Utilized large-scale genome-wide association study (GWAS) data from UK Biobank (UKBB) and Global Lipid Genetics Consortium (GLGC) for lipid traits.
Employed single-variable Mendelian randomization (SVMR) and multivariate Mendelian randomization (MVMR) analyses.
Analyzed outcome data for SSNHL from the Finnegan Biobank (1491 cases, 196,592 controls).

Main Results:

SVMR indicated a significant inverse association between high-density lipoprotein cholesterol (HDL-C) and SSNHL in primary lipid data (OR: 0.822, p=0.023).
MVMR analysis confirmed that lower HDL-C levels were significantly associated with an increased risk of SSNHL (OR: 0.755, p=0.019).
No significant causal association was found between low-density lipoprotein cholesterol (LDL-C) or triglycerides (TG) and SSNHL in either SVMR or MVMR analyses.

Conclusions:

Mendelian randomization results suggest that reduced serum HDL-C levels are an independent risk factor for SSNHL.
Monitoring and managing lipid profiles, particularly HDL-C, may be beneficial for SSNHL prevention and treatment.
This study provides genetic evidence supporting a causal link between low HDL-C and SSNHL.