Global Genetics Consortium: Collaborative pooled analysis on the association of the alpha-synuclein gene rep1 variant and Parkinson's Disease

We aim to determine:

1. whether length variability of a dinucleotide repeat sequence (REP1) within the promoter of the alpha-synuclein ( SNCA ) gene confers susceptibility for Parkinson's disease (PD);
2. whether these variants modify age at onset; and
3. whether these variants after SNCA gene expression in human cell lines.

The proposed studies include a collaborative-pooled analysis of published and unpublished individual-level data from case-control studies of the SNCA gene REP1 variant and PD as well as functional studies of REP1-specific gene expression. These studies will clarify the role of SNCA gene over-expression in diverse PD populations and the plausibility of therapies aiming to reduce SNCA gene expression.

We will fulfill these aims by establishing a Global Genetics Consortium. The 21 investigators represent 18 sites within 11 countries and four continents. We will compile and analyze existing data for 3,726 PD cases and 3,440 controls.