Interaction between APOE and PRNP in Sporadic Alzheimer's and Creutzfeldt-Jakob Diseases

2011

Genetic Interaction Between APOE and PRNP in Alzheimer's and Creutzfeldt-Jakob Diseases

Sample size: 984 publication 10 minutes Evidence: high

Author Information

Author(s): Calero Olga, Bullido María J., Clarimón Jordi, Frank-García Ana, Martínez-Martín Pablo, Lleó Alberto, Rey María Jesús, Rábano Alberto, Blesa Rafael, Gómez-Isla Teresa, Valdivieso Fernando, de Pedro-Cuesta Jesús, Ferrer Isidro, Calero Miguel

Primary Institution: Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain

Hypothesis

Is there a genetic interaction between APOE and PRNP that affects the risk of developing Alzheimer's disease and Creutzfeldt-Jakob disease?

Conclusion

The study found that the presence of the APOE ε4 allele increases the risk of developing Alzheimer's disease, while homozygosity at the PRNP gene increases the risk for Creutzfeldt-Jakob disease, with significant interactions between these genes.

Supporting Evidence

The presence of the APOE ε4 allele is associated with a higher risk of developing Alzheimer's disease.
Homozygosity at the PRNP gene constitutes a risk for sporadic CJD.
Statistically significant associations were found for the other gene in strata at higher previous risk.
Synergy factor analysis showed a significant interaction between APOE and PRNP in both diseases.

Takeaway

This study looked at how two genes, APOE and PRNP, work together to affect the risk of getting Alzheimer's and another brain disease. They found that having certain versions of these genes can make you more likely to get these diseases.

Methodology

The study analyzed genotypes of 474 Alzheimer's patients, 175 sporadic CJD patients, and 335 control subjects using logistic regression to assess genotype distribution and risk associations.