The study examined genetic data from over 10,500 participants with Parkinson's disease (PD) enrolled in the PD GENEration study. The researchers found that reportable genetic variants were present in 12.9% of the 8,301 participants who had completed genetic testing.
The most common variants were found in the GBA1 gene (7.7%), followed by LRRK2 (2.4%) and PRKN (2.1%). Participants with GBA1 variants or presumed compound heterozygous or homozygous PRKN variants had an earlier age of PD onset compared to those with negative results.
The study also found that individuals with elevated genetic risk factors, such as early age of onset, high-risk ancestry, or a first-degree relative with PD, had an 18% positivity rate for genetic variants. The researchers noted that this was higher than expected, as they "did not anticipate the high positivity rate for genetic mutations, specifically the nearly 10% having a positive result even without any known genetic risk factors."
The findings highlight the importance of genetic testing and counseling for individuals with Parkinson's disease, as the presence of certain genetic variants can impact disease onset and progression.
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by Edited Eve B... at www.medscape.com 08-20-2024
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