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Parkinson's Disease: Treatment01:24

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Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
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Genetic Modifiers of Parkinson's Disease: A Case-Control Study.

Matthew J Kmiecik1, Michael V Holmes1, Pierre Fontanillas1

  • 123andMe, Inc., Sunnyvale, California, USA.

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|September 10, 2025
PubMed
Summary
This summary is machine-generated.

Genetic factors like LRRK2 p.G2019S and GBA1 p.N409S significantly impact Parkinson's disease (PD) risk and symptoms. Polygenic risk scores (PRS) and APOE E4 also influence PD penetrance and presentation.

Keywords:
GBA1LRRK2Parkinson's diseaseneurodegenerationpolygenic risk scores

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Area of Science:

  • Genetics and Neurology
  • Neurodegenerative Diseases Research
  • Parkinson's Disease Etiology

Background:

  • Parkinson's disease (PD) has a complex genetic basis involving specific mutations and risk alleles.
  • Understanding the combined effects of genetic factors is crucial for predicting PD risk and progression.

Purpose of the Study:

  • To investigate the impact of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptom profiles.
  • To assess how these genetic factors interact to influence the likelihood and clinical presentation of Parkinson's disease.

Main Methods:

  • A large-scale, US-based observational case-control study utilizing data from 23andMe Inc. and the Fox Insight Genetic Substudy (FIGS).
  • Analysis of over 7.5 million participants, including specific cohorts of LRRK2 p.G2019S and GBA1 p.N409S carriers, dual carriers, and noncarriers.
  • Utilized survival models for cumulative PD incidence and logistic regressions for symptom associations, with PRS calculated from a European genome-wide association study.

Main Results:

  • By age 80, cumulative PD incidence was highest in dual LRRK2/GBA1 carriers (30%), followed by LRRK2 p.G2019S carriers (24%), GBA1 p.N409S carriers (4%), and noncarriers (2%).
  • Higher PRS correlated with increased variant penetrance and earlier PD diagnosis. GBA1 p.N409S was linked to a greater non-motor symptom burden (e.g., REM sleep behavior disorder, cognitive deficits), while LRRK2 p.G2019S had the lowest.
  • APOE E4 dosage increased the likelihood of reporting hallucinations and cognitive impairment.

Conclusions:

  • Genetic screening can effectively identify individuals for neuroprotective trials.
  • Genotype-specific outcome measures can refine clinical trial design and interpretation for Parkinson's disease.