Epidemiological genetics and meta-analysis of a polymorphism at codon 129 of the PRNP gene in Alzheimer’s disease in Brazil

Abstract

The polymorphism at codon 129 of the prion protein gene (PRNP) is a major risk factor for Creutzfeldt–Jakob disease (CJD). Several authors reported neuropathological and clinical overlapping between CJD and Alzheimer’s disease (AD), with a few association studies generating conflicting results. To investigate the distribution of this polymorphism in AD, we selected 58 patients with probable AD and 73 controls from a Brazilian population. There was no association between the PRNP polymorphism at codon 129 and AD. Our meta-analysis (performed using Alzgene; http://www.alzgene.org) along with previous studies conducted in Brazil demonstrated a negative association.

Keywords:

• Alzheimer’s disease
• Creutzfeldt–Jakob disease
• E200K mutation
• M129V polymorphism
• PRNP

Acknowledgements

We would like to express our gratitude to all those at the Laboratory of Immunopathology Keizo Asami for providing the support necessary to accomplish experiments. This study was funded by CNPq, PROPESQ-UFPE, CAPES, and FACEPE.