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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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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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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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.

Calwing Liao1,2, Charles-Etienne Castonguay1,2,3, Karl Heilbron4

  • 1Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

JAMA Neurology
|January 4, 2022
PubMed
Summary

This study identified five new genetic loci linked to essential tremor (ET), explaining 18% of its heritability. These findings reveal common genetic factors contributing to ET risk and overlap with Parkinson disease and depression.

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Area of Science:

  • Neurogenetics
  • Human Genetics
  • Movement Disorders

Background:

  • Essential tremor (ET) is a prevalent movement disorder, impacting approximately 5% of individuals over 65.
  • While genetic factors are suspected, specific common variants contributing to ET susceptibility remain largely unidentified.

Purpose of the Study:

  • To identify common genetic factors associated with the risk of developing essential tremor.
  • To elucidate the genetic architecture underlying ET heritability.

Main Methods:

  • A large-scale, case-control genome-wide association study (GWAS) was conducted using multicenter European samples.
  • Inverse-variance meta-analysis combined data from 483,054 individuals (7,177 ET cases and 475,877 controls).
  • Functional analyses and transcriptome-wide association studies (TWAS) were performed to explore biological pathways and identify candidate genes.

Main Results:

  • Five independent, genome-wide significant loci associated with ET were identified, collectively explaining about 18% of ET heritability.
  • Functional analyses revealed significant enrichment in cerebellar hemisphere, cerebellum, and axonogenesis pathways.
  • Significant genetic correlations were found between ET and Parkinson disease (r=0.28) and depression (r=0.12).
  • TWAS identified candidate genes including BACE2, LRRN2, DHRS13, and LINC00323 in relevant brain regions like the cerebellum.

Conclusions:

  • Common genetic variations contribute significantly to ET heritability.
  • This GWAS successfully identified novel common genetic risk factors for ET.
  • The findings provide insights into the genetic overlap between ET, Parkinson disease, and depression, suggesting shared biological pathways.