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

Re: Ultra-hypofractionated Stereotactic Ablative Body Radiotherapy for Primary Renal Cell Carcinoma: 5-year Outcomes from a Pooled Analysis of the FASTRACK Trials.

European urology·2026
Same author

Longitudinal Blood DNA Methylation Changes During Weight-Loss Intervention and Dementia Progression Risk.

Research square·2026
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

An Unusual Infectious Cause of Abdominal Pain: Non-typhoidal Salmonella Aortitis Complicating an Endovascular Aortic Stent Graft.

Cureus·2026
Same author

Alzheimer's disease risk prediction from clinical and social determinants of health: a machine learning cohort study in UK Biobank.

BMJ health & care informatics·2026
Same author

From aging to Alzheimer's disease: concordant brain DNA methylation changes in late life.

Genome medicine·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.

Oluwatosin A Olayinka1,2, John J Farrell2,3,4,5, Congcong Zhu2,3,4

  • 1Boston University Bioinformatics Program, Boston, MA, USA.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
PubMed
Summary
This summary is machine-generated.

This study reveals that rare variants (RVs) significantly impact Alzheimer's disease (AD) risk, even in individuals with low polygenic risk scores (PRS). Stratifying by PRS enhances the discovery of novel AD-associated RVs and low-frequency variants (LVs).

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
  • Neuroscience
  • Computational Biology

Background:

  • Polygenic risk scores (PRS) typically use common variants to estimate genetic risk for diseases like Alzheimer's disease (AD).
  • Rare variants (RVs), while not included in standard PRS, are known to contribute significantly to AD pathogenesis.
  • This study aimed to leverage PRS to identify novel associations with RVs in AD.

Purpose of the Study:

  • To investigate the association of rare variants (RVs) with Alzheimer's disease (AD) risk.
  • To determine if stratifying individuals by polygenic risk score (PRS) enhances the discovery of AD-associated RVs and low-frequency variants (LVs).
  • To explore RVs with opposing effects to an individual's genetic background risk.

Main Methods:

  • Calculated PRS for non-Hispanic white (NHW) samples (n=11,409) from the Alzheimer's Disease Sequencing Project (ADSP) R4 dataset.
  • Classified participants into high (n=5,442) and low (n=5,967) PRS groups based on the median.
  • Analyzed 11,485,531 low-frequency variants (LVs) and RVs (MAC>5) for association with AD in each PRS group separately using regression models.

Main Results:

  • Identified genome-wide significant associations for RVs and LVs with AD in both low and high PRS groups.
  • Observed disproportionate enrichment of risk variants in the low PRS group and protective variants in the high PRS group.
  • Discovered specific RVs and LVs associated with increased or decreased AD risk within distinct PRS strata, with no association in the opposite stratum.

Conclusions:

  • Stratifying individuals by common variant-based PRS improves the detection of RV and LV associations with AD.
  • An individual's PRS may not accurately reflect their overall genetic relative risk for AD.
  • The study identified unique RVs that confer risk opposite to the individual's genetic background, offering new research avenues.