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

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

Combining post-mortem and neuroimaging measures of brain amyloidosis to accelerate genomic discovery.

Brain : a journal of neurology·2026
Same author

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

Genome medicine·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

Blood DNA methylation signature of cognitive reserve moderates the association between CSF tau pathology and memory in prodromal Alzheimer's disease.

Alzheimer's & dementia (New York, N. Y.)·2026
Same journal

Evidence for progressive neurodegeneration in iatrogenic cerebral amyloid angiopathy.

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

Human brain connectome profiles mediate the relationship between pathology burden and clinical phenotypes in Alzheimer's disease.

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

Kat5 cKO mouse replicates biological domain signatures associated with Alzheimer's disease.

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

Evaluation of CSF and plasma tau species as fluid surrogate candidates for tau PET in prodromal to moderate Alzheimer's disease.

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

Associations of self-reported obstructive sleep apnea with cognition and dementia risk in cognitively unimpaired middle-aged adults.

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

Inflammation profiles in Alzheimer's disease relate to cognition and neurodegeneration.

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

Related Experiment Video

Updated: Jan 8, 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.

Brian W Kunkle1,2, Lissette Gomez3, Giuseppe Tosto4

  • 1John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.

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

This study identified novel genetic associations for Alzheimer's disease (AD) that differ between sexes. These sex-specific genetic factors may explain differences in AD risk and progression.

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 8, 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
  • Disease Mechanisms

Background:

  • Alzheimer's disease (AD) progression and pathology exhibit sex differences, suggesting underlying sex-specific factors.
  • While APOE genotype's influence on AD risk varies by sex, additional sex-specific genetic associations remain largely unexplored.

Purpose of the Study:

  • To identify novel sex-specific genetic associations for Alzheimer's disease (AD).
  • To conduct genome-wide sex-aware meta-analyses using large Alzheimer's Disease Genetics Consortium (ADGC) and Alzheimer's Disease Sequencing Project (ADSP) datasets.

Main Methods:

  • Performed sex-interaction and sex-stratified analyses on multi-ancestry genome-wide imputed AD datasets from ADGC.
  • Conducted STAAR aggregation-based rare-variant testing on whole-genome sequencing data from the ADSP in an ancestrally diverse sample.

Main Results:

  • Identified several loci with sex-specific associations, including male-specific variants in STXBP6, MAP4K5, and PICALM.
  • Discovered female-associated loci such as NPAS3, ZNF438, and NECTIN2 near APOE; identified ancestry-specific associations (e.g., COL4A2 in Asian males, C16orf96 in African females).
  • Rare-variant testing revealed novel genome-wide significant associations in females (e.g., SH3BP1) and population-specific associations (e.g., SERTAD4, PSMA5), along with male-specific effects (e.g., MORC1, ITPKA).

Conclusions:

  • Identified sex-specific AD genetic associations at loci containing AD-relevant genes (e.g., STXBP6, NPAS3, COL4A2, ITPKA, MORC1).
  • These findings highlight the importance of considering sex in AD genetic research.
  • Understanding these sex-specific associations may elucidate differences in AD risk and progression between males and females.