Research and Funding

Largest genetic study to date in Parkinson’s disease reveals risk genes

February 19, 2011

Parkinson’s disease, a progressive movement disorder, was historically considered a nongenetic disease. Now, in the largest genome-wide association study to date of Parkinson’s disease, scientists show genetics play a substantial role in the disease. They have identified five new genomic regions in people of European ancestry and confirmed six previously identified regions that may contribute to increased disease risk.

The study, funded in part by the NIH, involved leading Parkinson’s research centers in the United States and Europe working together to pool DNA data from more than 33,000 participants. The researchers first scanned the genome to locate regions containing gene variants associated with Parkinson’s. To confirm these findings, they then looked for these suspect risk variants in DNA from an independent group of people with Parkinson’s or free of the disease. Based on these 11 risk variants, they found that those individuals who were in the top 20 percent in terms of genetic risk were more than two and a half times as likely to have the disease than those who were in the bottom 20 percent of the genetic risk spectrum.

 “Up until just 10 or 15 years ago, the field did not think genetics played much of a role in the development of Parkinson’s disease,” said Dr. Andrew Singleton, chief of NIA’s Laboratory of Neurogenetics and co-author of the study. “This work not only increases our understanding of how genes are involved in the disease process, but with more research, may one day result in the development of better diagnostics and therapeutic interventions for this debilitating disease.”


International Parkinson Disease Genomics Consortium. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011 Feb 19;377(9766):641-9. Epub 2011 Feb 1.

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