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High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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Alzheimer's disease is associated with low density of the long CR1 isoform

Rachid Mahmoudi1, Aymric Kisserli2, Jean-Luc Novella1

  • 1Champagne-Ardenne Resource and Research Memory Center (CMRR), Maison Blanche Hospital, Reims University Hospitals, Reims, France; Department of Internal Medicine and Geriatrics, Maison Blanche Hospital, Reims University Hospitals, Reims, France; Faculty of Medicine, University of Reims Champagne-Ardenne, EA 3797, Reims, France.

Neurobiology of Aging
|February 11, 2015
PubMed

Insights

The long complement receptor type 1 (CR1*2) isoform is linked to Alzheimer's disease (AD) risk. AD patients with this CR1 isoform show lower red blood cell CR1 density, suggesting impaired plaque clearance.

Area of Science:

  • Immunogenetics
  • Neurodegenerative Diseases
  • Erythrocyte Biology

Background:

  • The long complement receptor type 1 (CR1) isoform, CR1*2 (S), is associated with Alzheimer's disease (AD) risk.
  • CR1 plays a role in immune regulation and clearance of immune complexes.

Purpose of the Study:

  • To investigate the phenotypic, structural, and expression characteristics of CR1 in erythrocytes of AD patients and controls.
  • To determine the association between CR1 length polymorphism and AD susceptibility.

Main Methods:

  • Analysis of CR1 length polymorphism at protein (Western blot) and gene (high-resolution melting) levels.
  • Quantification of erythrocyte CR1 sites using flow cytometry.
  • Genotyping of CR1 polymorphisms (rs6656401, rs3818361) via pyrosequencing.

Main Results:

  • CR1 density on erythrocytes was significantly lower in AD patients expressing the CR1*2 isoform compared to controls (p = 0.001).
  • CR1 gene polymorphisms rs6656401 and rs3818361 were strongly associated with CR1 length polymorphism (p < 0.0001).
  • Evidence suggests the existence of silent CR1 alleles.

Conclusions:

  • AD susceptibility is linked to the long CR1 isoform (CR1*2), characterized by lower CR1 density on erythrocytes.
  • These findings suggest AD may result from insufficient clearance of amyloid plaque deposits rather than increased neuroinflammation.

Keywords:
Alzheimer's diseaseCR1CR1 length polymorphismComplementGenetic riskSingle-nucleotide polymorphism

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