Analysis of Parkinson’s Disease Genetic Variants Detected in the PD GENEration Study in Hawaii
Kenny Thai1, Emma Krening2, Ruby Shuman1, Fay Gao1, Michiko Bruno1
1Neuroscience Research, The Queen's Health System, 2The Queen's Health System
Objective:
To report findings of the PD GENEration study in Hawaii’s racially diverse population.
Background:

PD GENEration is among the largest PD-focused genetic studies, testing for variants in seven PD-associated genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) for over 17,000 participants. Early enrollment in the study reported a lack of racial diversity, with the study population being 86% White as of June 2023.

Design/Methods:

We enrolled PD GENEration participants in a single center in Hawaii. We collected demographic information including self-identified race, sex, and year of PD symptom onset and diagnosis. When subjects identified with multiple racial groups, they were included in all racial groups they identified with in our analysis.

We analyzed the cohort’s data from November 2023 to September 2024. We used the Mann-Witney-Wilcox Test to compare results between groups and with the national study’s most recent publication.

Results:

Of 201 participants, 43.8% identified as White, 0.5% as Black, 63.2% as Asian, 2.0% as Native American/Alaskan, and 12.4% as Native Hawaiian/Pacific Islander (NHPI).

15 subjects (7.46%) tested positive for variants in one of the seven genes tested. This was significantly lower than the national rates as of June 2023 (12.89%), p=0.0227. Our rates were highest in White participants (9.1%), followed by NHPI (8%) and Asian participants (7.1%).

NHPI subjects self-reported a significantly larger gap between PD symptom onset and diagnosis (5 years on average) than the cohort’s average (2.64 years), p=0.0107.

Conclusions:

The positive rate of established genetic variants being lower than the national average in Hawaii’s racially diverse population suggests genetic risk factors may vary in different populations. Additionally, there may be a gap in study of the manifestations of PD in NHPI individuals or a lack of PD education in the NHPI population that leads to significant delays in diagnosis.

10.1212/WNL.0000000000212628
Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.