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: Ignacio F. Mata, Cornelis Blauwendraat, Manuela Mx Tan, Maria Swanberg, Ziv Gan-Or, Lasse Pihlstrøm, Sara Bandres-Ciga, Hampton L. Leonard, Jia Nee Foo, Kajsa Brolin, Mary B. Makarious
المصدر: Neurobiology of aging. 109
سنة النشر: 2021
مصطلحات موضوعية: Male, Aging, Latin Americans, Parkinson's disease, RIC3, Genotyping Techniques, Disease, Biology, White People, Cohort Studies, Asian People, medicine, Humans, Genotyping, Genetics, Whole Genome Sequencing, Asia, Eastern, General Neuroscience, Intracellular Signaling Peptides and Proteins, Family aggregation, Genetic Variation, Parkinson Disease, Hispanic or Latino, medicine.disease, Europe, Latin America, Cohort, Etiology, Female, Neurology (clinical), Geriatrics and Gerontology, Negative Results, Developmental Biology, Genome-Wide Association Study
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.
تدمد: 1558-1497
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975e6b618f1c2e7bb200405a2c38cb0a
https://pubmed.ncbi.nlm.nih.gov/34538707
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....975e6b618f1c2e7bb200405a2c38cb0a
قاعدة البيانات: OpenAIRE