Association Studies of Sporadic Parkinson’s Disease in the Genomic Era
Catherine Labbe and Owen A. Ross
Affiliation: Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
Parkinson’s disease is a common age-related progressive neurodegenerative disorder. Over the last 10 years,
advances have been made in our understanding of the etiology of the disease with the greatest insights perhaps coming
from genetic studies, including genome-wide association approaches. These large scale studies allow the identification of
genomic regions harboring common variants associated to disease risk. Since the first genome-wide association study on
sporadic Parkinson’s disease performed in 2005, improvements in study design, including the advent of meta-analyses,
have allowed the identification of ~21 susceptibility loci. The first loci to be nominated were previously associated to familial
PD (SNCA, MAPT, LRRK2) and these have been extensively replicated. For other more recently identified loci
(SREBF1, SCARB2, RIT2) independent replication is still warranted. Cumulative risk estimates of associated variants suggest
that more loci are still to be discovered. Additional association studies combined with deep re-sequencing of known
genome-wide association study loci are necessary to identify the functional variants that drive disease risk. As each of
these associated genes and variants are identified they will give insight into the biological pathways involved the etiology
of Parkinson’s disease. This will ultimately lead to the identification of molecules that can be used as biomarkers for diagnosis
and as targets for the development of better, personalized treatment.
Keywords: Sporadic Parkinson’s disease, Genetics, Genome-wide association studies.
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