RIC3 variants are not associated with Parkinson’s Disease in large European, Latin American, or East Asian cohorts

التفاصيل البيبلوغرافية
العنوان: RIC3 variants are not associated with Parkinson’s Disease in large European, Latin American, or East Asian cohorts
المؤلفون: Cornelis Blauwendraat, Maria Swanberg, Ignacio F. Mata, Ziv Gan-Or, Mary B. Makarious, Jia Nee Foo, Sara Bandres-Ciga, Lasse Pihlstrøm, Manuela Mx Tan, Hampton L. Leonard, Kajsa Brolin
بيانات النشر: Cold Spring Harbor Laboratory, 2021.
سنة النشر: 2021
مصطلحات موضوعية: Genetics, Parkinson's disease, Latin Americans, RIC3, Cohort, medicine, Etiology, Family aggregation, Disease, Biology, medicine.disease, Genotyping
الوصف: Parkinson’s disease (PD) is a complex neurodegenerative disorder in which both rare and common genetic variants contribute to disease risk. Multiple genes have been reported to be linked to monogenic PD, but these only explain a fraction of the observed familial aggregation. Rare variants in RIC3 have been suggested to be associated with PD in the Indian population. However, replication studies yielded inconsistent results. We further investigate the role of RIC3 variants in PD in European cohorts using individual-level genotyping data from 14,671 PD patients and 17,667 controls, as well as whole-genome sequencing data from 1,615 patients and 961 controls. We also investigated RIC3 using summary statistics from a Latin American cohort of 1,481 individuals, and from a cohort of 31,575 individuals of East Asian ancestry. We did not identify any association between RIC3 and PD in any of the cohorts. However, more studies of rare variants in non-European ancestry populations, in particular South Asian populations, are necessary to further evaluate the world-wide role of RIC3 in PD etiology.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5ef077d41d0b191b143b575280f5f408
https://doi.org/10.1101/2021.06.22.21259012
حقوق: OPEN
رقم الأكسشن: edsair.doi...........5ef077d41d0b191b143b575280f5f408
قاعدة البيانات: OpenAIRE