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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.4K
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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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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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Related Experiment Video

Updated: Jun 27, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Genome sequence analyses identify novel risk loci for multiple system atrophy.

Ruth Chia1, Anindita Ray2, Zalak Shah2

  • 1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Neuron
|May 3, 2024
PubMed
Summary

This study identifies novel genetic risk factors for Multiple System Atrophy (MSA), a rare neurodegenerative disease. The findings advance understanding of MSA

Keywords:
GWASMSATWAScolocalizationgene-burden analysisgenome-wide association studymultiple system atrophypathway analysisrepeat expansion mappingtranscriptome-wide association studywhole genome sequencing

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Area of Science:

  • Neurogenetics
  • Neurodegenerative Diseases
  • Genomics

Background:

  • Multiple System Atrophy (MSA) is a rare, sporadic neurodegenerative disorder.
  • Characterized by parkinsonism, cerebellar ataxia, and dysautonomia.
  • The genetic basis of MSA remains largely unknown, with limited treatment options.

Purpose of the Study:

  • To systematically investigate the genetic underpinnings of Multiple System Atrophy (MSA).
  • To identify novel genetic risk loci associated with MSA.
  • To explore the functional impact of identified variants on gene expression.

Main Methods:

  • Genome-wide association study (GWAS) of whole genome sequence data.
  • Analysis of 888 European-ancestry MSA cases and 7,128 controls.
  • Transcriptome-wide association studies (TWAS) and single-nucleus RNA sequencing (snRNA-seq).

Main Results:

  • Identified four significantly associated risk loci for MSA.
  • Prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes.
  • Demonstrated that associated variants function as cis-expression quantitative trait loci (cis-eQTLs) in neuronal and glial cells.

Conclusions:

  • Genetic factors play a significant role in the pathogenesis of MSA.
  • The identified genes and loci offer new targets for understanding MSA.
  • The study provides a valuable public resource for synucleinopathy research.