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

• Published in: NPJ Parkinson's Disease Vol. 9; no. 1; pp. 160 - 6
• Main Authors: Miltenberger-Miltenyi, Gabriel, Ortega, Roberto A., Domingo, Aloysius, Yadav, Rachita, Nishiyama, Ayumi, Raymond, Deborah, Katsnelson, Viktoriya, Urval, Nikita, Swan, Matthew, Shanker, Vicki, Miravite, Joan, Walker, Ruth H., Bressman, Susan B., Ozelius, Laurie J., Cabassa, José C., Saunders-Pullman, Rachel
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 07.12.2023; Nature Publishing Group; Nature Portfolio
• Subjects: 692/499; 692/617/375/1718; Age; Biomedical and Life Sciences; Biomedicine; Brief Communication; Ethnicity; Family medical history; Genealogy; Genes; Genetic testing; Genomes; Genomics; Health risk assessment; Hispanic Americans; Mutation; Neurology; Neurosciences; Parkinson's disease; Patients; Self report
• ISSN: 2373-8057; 2373-8057
• DOI: 10.1038/s41531-023-00599-6

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.