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Global Genetics Consortium: Collaborative pooled analysis on the association of the alpha-synucleingene REP1 variant and Parkinson’s disease

Our Edmond J. Safra Global Genetics Consortium aims to determine: 1) whether variability in the promoter region of the alpha-synuclein gene confers susceptibility for Parkinson's disease; 2) whether these gene variants also modify its age at onset; and 3) whether these variants alter the expression of the alpha-synuclein gene in cultured human cell lines.The studies include a collaborative-pooled analysis of published and unpublished individual-level data from case-control studies of the alpha-synuclein gene and Parkinson's disease as well as functional studies of gene expression.

Our consortium includes 21 investigators representing 18 sites within 11 countries and four continents. We will compile and analyze data for 3,726 Parkinson's disease cases and 3,449 controls. These studies will clarify the role of alpha-synuclein gene variability in diverse Parkinson's disease populations and the plausibility of disease modifying therapies aiming to reduce alpha-synuclein gene expression

Final Outcome

Dr. Maraganore created the Genetic Epidemiology of Parkinson’s Disease (GEO-PD) consortium, which currently consists of 18 global sites contributing a total of nearly 8,500 DNA samples from PD-affected and unaffected individuals. With his consortium, Dr. Maraganore has confirmed that a particular variation in the DNA region regulating the alpha-synuclein gene is associated with greater risk for PD — although it may not modify the age of onset.

Results of this work were published in the Journal of the American Medical Association (JAMA).


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