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Infection01:20

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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.
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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.
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Basic Science and Pathogenesis.

YiMeng Ren1, Qin Chen2

  • 1West China Hospital, Chengdu, Sichuan, China.

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

Lung function may protect against Alzheimer's disease (AD). Shared genetic factors between AD and Chronic Obstructive Pulmonary Disease (COPD) suggest overlapping disease mechanisms.

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Area of Science:

  • Genetics
  • Neurology
  • Pulmonology

Background:

  • Alzheimer's disease (AD) etiology involves complex mechanisms, with chronic hypoxia implicated in its progression.
  • Investigating the link between lung function and AD risk is crucial for understanding disease pathogenesis.

Purpose of the Study:

  • To identify potential genetic associations between lung function and Alzheimer's disease (AD).
  • To explore shared genetic susceptibility between AD and Chronic Obstructive Pulmonary Disease (COPD).

Main Methods:

  • Mendelian randomization (MR) analysis using large-scale GWAS data for AD and lung function.
  • Genome-wide association studies (GWAS) to validate risk single nucleotide polymorphisms (SNPs) in AD and COPD.
  • Utilized REGENIE for association testing and FUMA GWAS for functional annotation of identified SNPs.

Main Results:

  • Mendelian randomization indicated that forced vital capacity (FVC) and forced expiratory volume in 1-second (FEV1) may be protective against AD.
  • GWAS identified 49 significant risk SNPs for AD and 25 for COPD, with seven overlapping risk loci.
  • Enrichment analysis revealed significant association of AD-associated SNPs with lung tissue gene expression, suggesting respiratory pathway involvement.

Conclusions:

  • Seven identified risk loci highlight shared pathogenic gene polymorphisms between COPD and AD.
  • These findings support overlapping genetic susceptibility between AD and COPD.
  • Genetic correlation analysis confirms a strong link between AD and COPD, with shared significant SNPs.