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Coagulation factor XIII Val34Leu gene polymorphism and Alzheimer's disease

L Gerardino1, P Papaleo, A Flex

  • 1Laboratory of Vascular Biology and Genetics, Department of Medicine, A. Gemelli University Hospital, L.go A. Gemelli 8, Rome 00168, Italy. gerlem@tin.it

Neurological Research
|February 10, 2007
PubMed

Insights

A common genetic variation in blood coagulation factor XIII (FXIII), the Val34Leu polymorphism, is linked to an increased risk of developing Alzheimer's disease (AD). The LL genotype specifically showed a higher frequency in AD patients, suggesting a potential role in disease pathogenesis.

Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • Blood coagulation factor XIII (FXIII) is implicated in inflammatory processes.
  • Inflammation is increasingly recognized as a factor in neurodegenerative disorders like Alzheimer's disease (AD).
  • The FXIIIa subunit has been observed in reactive microglia within AD brains.

Purpose of the Study:

  • To investigate the association between a common polymorphism in the FXIII gene (Val34Leu) and sporadic Alzheimer's disease (AD).

Main Methods:

  • Genotyping analysis of the FXIII Val34Leu polymorphism in 90 sporadic AD patients and 139 age- and sex-matched controls.
  • Statistical analysis, including logistic regression, to determine the risk associated with different genotypes.

Main Results:

  • The LL genotype of the FXIII Val34Leu polymorphism was found at a significantly higher frequency in AD patients compared to controls (p<0.05).
  • Logistic regression analysis revealed a significantly increased risk of AD in individuals with the LL genotype (odds ratio: 3.6, p<0.01).

Conclusions:

  • This study provides the first evidence of an association between the FXIII Val34Leu polymorphism and Alzheimer's disease.
  • The LL genotype may represent a genetic risk factor for developing sporadic AD, potentially through its role in inflammation.

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