Large-scale rare variant burden testing in Parkinson's disease

Abstract Parkinson’s disease has a large heritable component and genome-wide association studies have identified over 90 variants with disease-associated common variants, providing deeper insights into the disease biology. However, there have not been large-scale rare variant analyses for Parkinson’...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2023-11, Vol.146 (11), p.4622-4632
Hauptverfasser:	Makarious, Mary B, Lake, Julie, Pitz, Vanessa, Ye Fu, Allen, Guidubaldi, Joseph L, Solsberg, Caroline Warly, Bandres-Ciga, Sara, Leonard, Hampton L, Kim, Jonggeol Jeffrey, Billingsley, Kimberley J, Grenn, Francis P, Jerez, Pilar Alvarez, Alvarado, Chelsea X, Iwaki, Hirotaka, Ta, Michael, Vitale, Dan, Hernandez, Dena, Torkamani, Ali, Ryten, Mina, Hardy, John, Scholz, Sonja W, Traynor, Bryan J, Dalgard, Clifton L, Ehrlich, Debra J, Tanaka, Toshiko, Ferrucci, Luigi, Beach, Thomas G, Serrano, Geidy E, Real, Raquel, Morris, Huw R, Ding, Jinhui, Gibbs, J Raphael, Singleton, Andrew B, Nalls, Mike A, Bhangale, Tushar, Blauwendraat, Cornelis
Format:	Artikel
Sprache:	eng
Schlagworte:	Gene Frequency Genetic Predisposition to Disease - genetics Genome-Wide Association Study - methods Humans Original Parkinson Disease - genetics Receptors, Immunologic Risk Factors
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Beschreibung
Zusammenfassung:	Abstract Parkinson’s disease has a large heritable component and genome-wide association studies have identified over 90 variants with disease-associated common variants, providing deeper insights into the disease biology. However, there have not been large-scale rare variant analyses for Parkinson’s disease. To address this gap, we investigated the rare genetic component of Parkinson’s disease at minor allele frequencies
ISSN:	0006-8950 1460-2156
DOI:	10.1093/brain/awad214