Related Experiment Video

Updated: May 25, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation

Petroula Proitsi1, Michelle K Lupton, Frank Dudbridge

  • 1King's College London, Institute of Psychiatry, De Crespigny Park, London, UK. petroula.proitsi@kcl.ac.uk

Neurobiology of Aging
|February 4, 2012
PubMed

Insights

Genetic risk factors for age-related macular degeneration (AMD) show a different association with Alzheimer's disease (AD). Complement pathway genes are implicated in AMD but less so in Alzheimer's disease.

Area of Science:

  • Neurodegenerative diseases
  • Genetics
  • Immunology

Background:

  • Alzheimer's disease (AD) and age-related macular degeneration (AMD) are neurodegenerative disorders.
  • Both conditions share pathological and biochemical similarities involving the complement pathway.

Purpose of the Study:

  • To investigate the association between known AMD genetic risk factors and AD.
  • To determine if genetic factors influencing AMD also impact AD risk.

Main Methods:

  • Genotyping of single nucleotide polymorphisms (SNPs) in complement factor H (CFH), ARMS2, C2, CFB, and C3 genes.
  • Analysis of a large cohort of AD patients (n=3898) and controls.
  • Comparison of genetic associations between AMD and AD.

Main Results:

  • Modest associations were found between CFH, ARMS2, and C3 SNPs and AD, but with different genetic models or directions compared to AMD.
  • A multilocus genetic model predictive of AMD sibling risk did not predict AD risk.
  • The alternative complement pathway appears central to AMD but less involved in AD pathogenesis.

Conclusions:

  • The genetic underpinnings of AD and AMD, particularly concerning the complement pathway, differ.
  • While complement factors are key in AMD, their role in AD pathogenesis is less significant.
  • This study refines our understanding of the distinct mechanisms in these neurodegenerative diseases.

More Related Videos

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Enrichment of Bruch's Membrane from Human Donor Eyes10:22

Enrichment of Bruch's Membrane from Human Donor Eyes

Published on: November 15, 2015

Related Concept Videos

Complementation Tests00:49

Complementation Tests

A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
Alzheimer Disease l: Introduction01:29

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...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

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...
Genetic Lingo01:11

Genetic Lingo

Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...