Article
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Nature structural & molecular biology - 1 Dec 2024
Álvarez Jerez Pilar, Wild Crea Peter, Ramos Daniel M, Gustavsson Emil K, Radefeldt Mandy, Damianov Andrey, Makarious Mary B, Ojo Oluwadamilola O, Billingsley Kimberley J, Malik Laksh, Daida Kensuke, Bromberek Sarah, Hu Fangle, Schneider Zachary, Surapaneni Aditya L, Stadler Julia, Rizig Mie, Morris Huw R, Pantazis Caroline B, Leonard Hampton L, Screven Laurel, Qi Yue A, Nalls Mike A, Bandres-Ciga Sara, Hardy John, Houlden Henry, Eng Celeste, Burchard Esteban González, Kachuri Linda, Lin Chia-Ho, Black Douglas L, Singleton Andrew B, Fischer Steffen, Bauer Peter, Reed Xylena, Ryten Mina, Beetz Christian, Ward Michael, Okubadejo Njideka U, Blauwendraat Cornelis
Abstract excerpt
Recently, an African ancestry-specific Parkinson disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (GBA1). This variant ( rs3115534 -G) is carried by ~50% of West African PD cases and imparts a dose-dependent increase in risk for disease. The risk variant has varied frequencies across African ancestry groups but is almost absent in European and Asian ancestry populations. GBA1 is a...
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