Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Infection01:20

Infection

11.6K
When a pathogen enters the body and reproduces, it can cause an infection, damage body cells, and cause illness symptoms that eventually lead to disease. Therefore, its prevention requires breaking the chain of infection.
The chain begins with pathogens: bacteria, viruses, fungi, prions, or parasites such as protozoa helminths. These can be present on the skin as transient or resident flora, or they can be acquired from the environment. Identifying and treating the type of infection and...
11.6K
Urinary Tract Infection II: Pathophysiology01:25

Urinary Tract Infection II: Pathophysiology

524
The pathophysiology of urinary tract infections (UTIs) encompasses several progressive stages, beginning with bacterial colonization and culminating in potential systemic complications if untreated. UTIs are primarily initiated by bacteria, such as Escherichia coli, which often originate from the gastrointestinal tract and migrate to the urinary system through the periurethral area. This migration can occur via several routes, including improper hygiene practices, sexual activity, or...
524
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

676
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
676
Pneumonia II: Pathophysiology01:29

Pneumonia II: Pathophysiology

2.5K
The pathophysiology of pneumonia involves the following steps:
2.5K
Stages of Infection01:26

Stages of Infection

64.7K
Stages of infection describe what happens to a susceptible host once a pathogen invades the human body. The stages of infection are incubation, prodromal, illness, stage of decline, and convalescence. The incubation stage is the period from exposure to a pathogen until symptoms start. The infected person is unaware of impending illness as the pathogens grow and multiply within the body. The duration may vary depending on the type of infection. The incubation period of measles averages ten to...
64.7K
Defense Against Bacterial Pathogens01:31

Defense Against Bacterial Pathogens

2.6K
The human immune system is a complex network of cells, tissues, and organs that work together to defend the body against bacterial infections. It consists of various immune cells, each playing a specific role in the defense mechanism.
Phagocytes
Phagocytes are the frontline soldiers of the immune system. They include neutrophils and macrophages. Neutrophils are the most abundant type of white blood cell and are quickly mobilized to the site of infection. Macrophages are larger cells that patrol...
2.6K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer's disease and related dementias in a multi-site autopsy cohort.

PLoS genetics·2026
Same author

Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer's disease.

medRxiv : the preprint server for health sciences·2026
Same author

Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease.

American journal of human genetics·2026
Same author

Sex-specific genetic drivers of memory, executive functioning and language in older adults.

Brain : a journal of neurology·2026
Same author

Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same author

Genetic modifiers of APOE-ε4-associated cognitive decline.

Nature communications·2026
Same journal

Multimorbidity burden and patterns associated with DeepBrainNet-derived brain-age gap in dementia-free older adults: A community-based study.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Reply to "Shifting the emphasis of brain health literacy from individuals to systems to reduce inequalities".

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Shifting the emphasis of brain health literacy from individuals to systems to reduce inequalities.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Correlates and predictors of self-efficacy among dementia caregivers: D-CARE findings.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

What should convince a clinician of disease modification in Alzheimer's disease clinical trials?

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Primary cilia-extracellular vesicle crosstalk in Alzheimer's disease: Emerging mechanisms and biomarker potential.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
See all related articles

Related Experiment Video

Updated: Jan 7, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
09:07

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses

Published on: June 14, 2020

11.5K

Basic Science and Pathogenesis.

Katrina Bazemore1, Taha Iqbal1, Jin Sha1

  • 1University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 25, 2025
PubMed
Summary
This summary is machine-generated.

Pathway-specific polygenic risk scores (pathway-PRS) for Alzheimer's Disease (AD) were evaluated using three annotation strategies. Including regulatory variants shifted focus from amyloid pathways to protein and cellular localization pathways.

More Related Videos

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia
13:45

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia

Published on: September 21, 2019

6.0K
Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses
08:38

Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses

Published on: February 22, 2019

6.3K

Related Experiment Videos

Last Updated: Jan 7, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
09:07

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses

Published on: June 14, 2020

11.5K
A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia
13:45

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia

Published on: September 21, 2019

6.0K
Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses
08:38

Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses

Published on: February 22, 2019

6.3K

Area of Science:

  • Genetics
  • Bioinformatics
  • Neuroscience

Background:

  • Pathway-specific polygenic risk scores (pathway-PRS) assess genetic susceptibility to complex diseases.
  • Positional annotation may miss non-coding variants crucial for diseases like Alzheimer's Disease (AD).
  • This study compares three annotation strategies for AD pathway-PRS in UK Biobank (UKB) data.

Purpose of the Study:

  • To evaluate the impact of different variant annotation strategies on Alzheimer's Disease (AD) pathway-specific polygenic risk score (pathway-PRS) performance.
  • To determine how incorporating regulatory information affects pathway prioritization in AD genetics.
  • To compare pathway-PRS derived from positional vs. functional annotations.

Main Methods:

  • Pathway enrichment analysis performed on AD genetic summary statistics.
  • Three variant annotation strategies (S-1, S-2, S-3) were applied, incorporating positional, chromatin interaction, and eQTL data.
  • Pathway-PRS were constructed, tuned in a UKB training set, and validated in a UKB testing set.

Main Results:

  • Twenty pathway-clusters representing 37 Gene Ontology (GO) pathways were identified.
  • Strategy S-3 annotated significantly fewer variants compared to S-1 and S-2.
  • Annotation strategies influenced pathway prioritization, with S-3 highlighting protein and cellular localization pathways over amyloid-related pathways.

Conclusions:

  • Including regulatory variants in AD pathway-PRS construction shifts focus from amyloid pathways to protein and cellular localization pathways.
  • The choice of annotation strategy significantly impacts the biological interpretation of AD genetic risk.
  • Future work will explore incorporating functional annotations as priors for pathway-PRS construction.