Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease

Rachel Saunders-Pullman & Laurie Ozelius
Genetic risk variants


There is a paucity of genetic characterization in people with Parkinson’s disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican ethnicity with PD and in 119 non-Hispanic-non-Jewish European PD cases revealed that Puerto Rican participants were more likely to harbor the LRRK2-p.G2019S variant (15.6% vs. 4.2%, respectively). Additionally, whole exome sequencing of twelve Puerto Rican and Dominican PD participants was performed as an exploratory study.


Evaluation of the frequency of LRRK2-p.G2019S and GBA variants was carried out in 151 participants in total: 32 with self-reported Puerto Rican ethnicity, and 119 with non-Hispanic-non-Jewish European ancestry from MSBI, SUNY Downstate and James J. Peters Veterans Affairs Medical Center (Bronx). Subsequently, 8 participants of Puerto Rican and 4 of Dominican ethnicity who were negative in the LRRK2 or GBA testing, and who had higher likelihood of genetic etiology because of younger age of onset and/or positive FH, were selected for WES. We chose 57 years as cut-off for age of onset as this was the median age in our overall sample, and included patients with any FH, but did not limit to first-degree relatives. One Puerto Rican participant was subsequently excluded from the AF analyses due to discovery of biallelic PRKN deletions on an independent clinical testing including MLPA.

All participants met criteria for PD and signed informed consents from their respective institutions. The study was approved by and conforms with all Ethical Regulations of the Mount Sinai Internal Review Board and SUNY Downstate Internal Review Board.

Data Availability

The IRBs of the participating institutions do not allow direct access to datasets used and/or analysed during the current study. Datasets are available directly from from Laurie Ozelius ( or from Rachel Saunders-Pullman ( upon request with approval of a data use agreement.


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