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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.
GWAS does not require the identification of the target gene involved in...
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Alzheimer's Disease: Overview01:26

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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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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Alzheimer's Disease: Treatment01:22

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Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
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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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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Multi-ancestry Transcriptome-Wide Association Study Reveals Shared and Population-Specific Genetic Effects in

Xinyu Sun1,2, Makaela Mews3,2, Nicholas R Wheeler1,2

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This study reveals that analyzing Alzheimer's disease (AD) genetics across diverse populations improves gene discovery. Multi-population analysis identified new AD risk variants and highlighted the need for broader cohort inclusion.

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Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
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Area of Science:

  • Genetics
  • Neuroscience
  • Population Health

Background:

  • Alzheimer's disease (AD) genetic risk varies significantly across different ancestral populations.
  • Most previous genetic studies have disproportionately focused on Non-Hispanic White (NHW) cohorts, limiting understanding of AD in other groups.

Purpose of the Study:

  • To conduct a multi-population transcriptome-wide association study (TWAS) to identify AD genetic risk factors across diverse ancestries.
  • To improve the resolution of gene expression quantitative trait loci (eQTLs) and identify functional variants associated with AD risk beyond established genome-wide association study (GWAS) signals.

Main Methods:

  • Utilized whole-blood RNA sequencing and genotype data from NHW, African American (AA), and Hispanic (HISP) participants within the MAGENTA cohort.
  • Employed SuShiE for multi-population fine-mapping to identify credible sets of eQTLs for thousands of genes.
  • Performed population-stratified TWAS and meta-analysis using FUSION and MAFOCUS frameworks.

Main Results:

  • Identified credible sets of eQTLs for 8,748 genes, with improved fine-mapping precision compared to single-population analyses.
  • Prioritized and fine-mapped nine genes associated with AD risk, including known loci (BIN1, PTK2B, DMPK) with consistent cross-population effects.
  • Discovered a novel association between COG4 expression and AD in NHW, suggesting a role for Golgi apparatus function, and identified regulatory variants beyond GWAS index SNPs at the BIN1 locus.

Conclusions:

  • Multi-population fine-mapping enhances eQTL resolution and TWAS interpretability, uncovering functional variants missed by traditional GWAS.
  • Findings underscore the critical need to expand non-European cohorts in AD research to elucidate both shared and population-specific disease mechanisms.
  • The study successfully identified novel AD-associated genes and regulatory variants, advancing the understanding of AD pathogenesis across diverse populations.