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Possible protective role of the 489C>T P2X7R polymorphism in Alzheimer's disease

Juana M Sanz1, Simonetta Falzoni2, Roberta Rizzo3

  • 1Department of Medical Sciences, Section of Internal Medicine, Gerontology, and Clinical Nutrition, Azienda Ospedaliera-Universitaria "S. Anna", Ferrara, Italy.

Experimental Gerontology
|December 3, 2014
PubMed

Insights

The P2X7 receptor (P2X7R) 489C>T gene variant is less common in Alzheimer's disease (AD) patients. This specific P2X7R polymorphism, particularly with the 1513C allele, may protect against AD development.

Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • Inflammation plays a crucial role in Alzheimer's disease (AD) pathogenesis.
  • The P2X7 receptor (P2X7R) is a key pro-inflammatory mediator implicated in microglial activation and cytokine release, such as IL-1β, in response to amyloid-beta (Aβ).

Purpose of the Study:

  • To investigate the association between P2X7R gene single-nucleotide polymorphisms (SNPs) and Alzheimer's disease risk.
  • To determine if specific P2X7R variants influence susceptibility to AD.

Main Methods:

  • Genomic DNA samples from AD patients and age-matched controls were analyzed.
  • Real-time polymerase chain reaction (RT-PCR) was used to genotype two P2X7R SNPs: 489C>T and 1513A>C.

Main Results:

  • The 489C>T SNP was significantly less frequent in AD patients compared to controls (p=0.01).
  • No significant difference in the frequency of the 1513A>C SNP was observed between groups.
  • Carrying the 1513C allele and lacking the 489C allele reduced the odds of having AD by approximately fourfold.

Conclusions:

  • A strong negative association exists between the P2X7R 489C>T polymorphism and Alzheimer's disease.
  • The protective effect is particularly pronounced when the 1513C allele is also present, suggesting a combined genetic influence on AD risk.
Keywords:
Alzheimer's diseaseP2X7RPolymorphismrs208294rs3751143

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