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August 2026 EXPLORING GENETIC DIFFERENCES IN PARKINSON’S DISEASE BY ANCESTRYA landmark international study has found that the genetic drivers of Parkinson’s disease can vary dramatically between populations.
The study, published in The Lancet Neurology, analyzed genetic data from 58,559 people with Parkinson’s and 41,224 people without the disease. Investigators examined known Parkinson’s disease-causing mutations and high-risk variants across 11 ancestry groups, making it the largest and most genetically diverse Parkinson’s study conducted to date. The findings have immediate implications for the newest generation of therapies targeting specific Parkinson’s-related genes as they move through clinical trials, says Niccolo Mencacci, MD, PhD, a co-author of the study. Investigators found that 2.1% of people with Parkinson’s carried a genetic variant known to directly cause the disease, while nearly 12 % carried variants that increase disease risk. However, the frequency of variants differed substantially among ancestry groups. For example, disease-causing variants were identified in 10.7 % of participants of Ashkenazi Jewish ancestry, but as few as 0.4 % of participants of African ancestry. Based on the study data, risk-associated variants in the genes GBA1 and LRRK2 were detected in nearly 6,900 people with Parkinson’s disease. One of the study’s major discoveries was that while the same genes often contribute to Parkinson’s disease across populations, the specific variants within those genes can differ markedly by ancestry. “The gene GBA1 turned out to be important in every single population studied, which is good news for treatments targeting it,” Dr. Mencacci says. “But the specific changes within that gene were often completely different from one group to another.” He added that one GBA1 variant was found to be very common among people of African ancestry but is rarely seen in European populations. Similar patterns emerged for LRRK2, another key target of experimental Parkinson’s therapies. The well-known LRRK2 G2019S variant was especially common among Ashkenazi Jewish, Middle Eastern and Latino populations, while other different LRRK2 variants appeared to play a larger role in East Asian populations. The study arrives as pharmaceutical companies pursue precision medicine approaches aimed at treating patients according to their unique genetic makeup. “This matters a lot right now because new treatments are being developed that specifically target genes linked to Parkinson’s, like GBA1 and LRRK2,” Dr. Mencacci says. The research highlights that these treatments may be relevant to far more people with Parkinson’s than expected, Dr. Mencacci says, a discovery that would have been missed if research had focused on people of European ancestry alone. Nearly 30% of study participants came from historically underrepresented populations, including individuals of African, Latin American, Central Asian and other ancestries. Investigators say expanding that representation even further will be critical for future discoveries. The study was supported by Aligning Science Across Parkinson’s through the Global Parkinson’s Genetics Program. Additional support was provided by the Intramural Research Program of the NIH. This article was originally published in the Feinberg School of Medicine News Center on August 4, 2026. |
Niccolo Mencacci, MD, PhD, assistant professor in the Ken and Ruth Davee Department of Neurology’s Division of Movement Disorders, was a co-author of the study.
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