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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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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Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
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Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...

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Related Experiment Video

Updated: Jul 12, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Retinal Transcriptome-Wide Association Study Identifies Novel Alzheimer's Disease Risk Genes.

Yinuo Zhang, Brian Chen, Huaigu Sun

    Medrxiv : the Preprint Server for Health Sciences
    |July 10, 2026
    PubMed
    Summary
    This summary is machine-generated.

    Retinal gene expression links to Alzheimer's disease (AD) risk, identifying 62 AD-associated genes. This research highlights the retina as a key tissue for understanding dementia and discovering new AD risk genes.

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    Area of Science:

    • Neurogenetics
    • Ophthalmology
    • Genomics

    Background:

    • Alzheimer's disease (AD) is the primary cause of dementia globally.
    • The retina shares molecular pathways with the brain, but its gene expression link to AD risk is unexplored.

    Purpose of the Study:

    • To systematically investigate the association between retinal gene expression and Alzheimer's disease risk.
    • To identify novel genetic risk factors for AD using retinal data.

    Main Methods:

    • Performed transcriptome-wide association studies (TWAS) using two independent retinal expression quantitative trait loci (eQTL) panels.
    • Utilized a large meta-analyzed Alzheimer's Disease Genome-Wide Association Study (GWAS) for discovery and validation.
    • Validated findings using GWAS in the Alzheimer's Disease Sequencing Project (ADSP).

    Main Results:

    • Identified 62 AD-associated genes from retinal data, with 31 replicated in an independent cohort.
    • Highlighted shared complement-mediated immune dysregulation pathways (e.g., CD55, CD46, TREM2).
    • Provided evidence for novel AD causal genes, including STYX and the LRRC37 gene family.

    Conclusions:

    • Retinal gene expression data effectively captures the core genetic architecture of Alzheimer's disease.
    • Revealed novel AD risk genes, underscoring the retina's value as a molecularly informative tissue for dementia research.