Movement disorders : official journal of the Movement Disorder Society · 2026
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-Analysis.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Chifamba Leah V, Parlar Sitki Cem, Somerville Emma N, Liu Lang, Yu Eric, Asayesh Farnaz, Ahmad Jamil, Teferra Meron, Ruskey Jennifer A, Waters Cheryl, Monchi Oury, Dauvilliers Yves, Dupré Nicolas, Timofeeva Alla, Emelyanov Anton, Pchelina Sofya, Miliukhina Irina, Greenbaum Lior, Hassin-Baer Sharon, Goldstein Orly, Radefeldt Mandy, Bauer Peter, Beetz Christian, Dilliott Allison A, Beck James C, Senkevich Konstantin, ROPAD Study Group, Parkinson's Foundation PD GENEration Study, Klein Christine, Alcalay Roy N, Gan-Or Ziv
Аннотация
BACKGROUND: Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
OBJECTIVE: The aim was to determine whether the GBA1 p.E427K variant is associated with risk of synucleinopathies.
METHODS: We performed a meta-analysis of case-control studies reporting the frequency of GBA1 p.E427K (p.E388K) in PD and related synucleinopathies. Data were obtained from published studies, open-access resources, and large cohorts, including in-house datasets. Odds ratios (OR) were calculated for each cohort and pooled using a random-effects model.
RESULTS: Across 67,221 patients and 123,832 controls, GBA1 p.E427K was associated with increased disease risk (pooled OR = 1.94, 95% confidence interval 1.33-2.84, P = 0.0007). Enzymatic data showed reduced glucocerebrosidase activity in carriers.
CONCLUSIONS: The GBA1 p.E427K variant is a risk factor for synucleinopathies and should be considered in genetic studies and clinical trials. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
OBJECTIVE: The aim was to determine whether the GBA1 p.E427K variant is associated with risk of synucleinopathies.
METHODS: We performed a meta-analysis of case-control studies reporting the frequency of GBA1 p.E427K (p.E388K) in PD and related synucleinopathies. Data were obtained from published studies, open-access resources, and large cohorts, including in-house datasets. Odds ratios (OR) were calculated for each cohort and pooled using a random-effects model.
RESULTS: Across 67,221 patients and 123,832 controls, GBA1 p.E427K was associated with increased disease risk (pooled OR = 1.94, 95% confidence interval 1.33-2.84, P = 0.0007). Enzymatic data showed reduced glucocerebrosidase activity in carriers.
CONCLUSIONS: The GBA1 p.E427K variant is a risk factor for synucleinopathies and should be considered in genetic studies and clinical trials. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.