患有帕金森病的波多黎各和多米尼加共和国裔纽约人的遗传风险变异。
Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's disease.
作者信息
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
机构信息
Laboratório de Genética, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.
出版信息
NPJ Parkinsons Dis. 2023 Dec 7;9(1):160. 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.
拉丁裔和非裔加勒比裔帕金森病（PD）患者的基因特征研究较少。对32名患有帕金森病的波多黎各裔纽约人和119名非西班牙裔非犹太裔欧洲帕金森病患者进行LRRK2和GBA基因变异筛查后发现，波多黎各裔参与者携带LRRK2-p.G2019S变异的可能性更高（分别为15.6%和4.2%）。此外，作为一项探索性研究，对12名波多黎各裔和多米尼加裔帕金森病参与者进行了全外显子组测序。
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