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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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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.
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Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
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Related Experiment Video

Updated: Mar 15, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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A genome-wide association study in multiple system atrophy.

Anna Sailer1, Sonja W Scholz2, Michael A Nalls1

  • 1Authors' affiliations are listed at the end of the article.

Neurology
|September 16, 2016
PubMed
Summary
This summary is machine-generated.

This genome-wide association study (GWAS) identified potentially interesting genetic loci for multiple system atrophy (MSA), including the MAPT locus. Common variants in SNCA and COQ2 were not associated with MSA risk.

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Area of Science:

  • Neuroscience
  • Genetics
  • Medical Research

Background:

  • Multiple system atrophy (MSA) is a rare, fatal neurodegenerative disorder.
  • The genetic underpinnings of MSA pathogenesis remain largely unknown.
  • Identifying genetic risk factors is crucial for understanding disease mechanisms and developing treatments.

Purpose of the Study:

  • To conduct a genome-wide association study (GWAS) to identify genetic variants associated with MSA.
  • To investigate the role of common genetic variation in MSA susceptibility.

Main Methods:

  • A GWAS was performed on 918 European ancestry MSA patients and 3,864 controls.
  • Over 5 million genotyped and imputed single nucleotide polymorphisms (SNPs) were analyzed.
  • MSA cases were sourced from North American and European centers, with neuropathological confirmation for one-third.

Main Results:

  • No statistically significant loci were identified after stringent multiple testing correction.
  • Several regions, including SNPs in FBXO47, ELOVL7, EDN1, and MAPT, showed potential association (p < 1 × 10-6).
  • No association was found between MSA and common genetic variants in SNCA and COQ2, contrary to previous reports.

Conclusions:

  • This GWAS provides a foundation for future research into MSA genetics.
  • The MAPT locus warrants further investigation in larger cohorts.
  • Common genetic variations in SNCA and COQ2 are unlikely to be major contributors to MSA risk.