Glucocerebrosidase gene mutations - A risk factor for Lewy body disorders
Glucocerebrosidase gene mutations - A risk factor for Lewy body disorders
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DOI：
10.1001/archneurol.2007.68
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发表时间：
2008-03-01
影响因子：
--
通讯作者：
Zabetian, Cyrus P.
中科院分区：
文献类型：
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作者：
Mata, Ignacio F.;Samii, Ali;Zabetian, Cyrus P.
背景资料：据报道，葡萄糖脑苷脂酶（GBA）基因突变可改变帕金森病（PD）和路易体痴呆（DLB）的风险。然而，这些发现并没有得到一致的重复，大多数研究都有实质性的方法缺陷。目的：为了更好地评估GBA变异体在改变路易体疾病风险中的作用。设计：病例对照研究。设置：华盛顿地区西雅图的四个运动障碍诊所。参与者：721例PD患者、554例健康对照组和57例DLB患者。主要结果指标：疾病状态和2种最常见的GBA突变的存在或不存在结果：PD患者中N370 S和L444 P基因突变的杂合子频率显著高于正常对照组（2.9%; P
Background: Mutations in the glucocerebrosidase (GBA) gene have been reported to modify risk for Parkinson disease (PD) and dementia with Lewy bodies (DLB). However, these findings have not been consistently replicated, and most studies have had substantial methodological shortcomings.Objective: To better assess the role of GBA variants in altering risk for Lewy body disorders.Design: Case-control study.Setting: Four movement disorder clinics in the Seattle, Washington, area.Participants: Seven hundred twenty-one patients with PD, 554 healthy control subjects, and 57 patients with DLB.Main Outcome Measures: Disease status and presence or absence of the 2 most common GBA mutations (N370S and L444P).Results: We observed a significantly higher heterozygote frequency for the 2 mutations in patients with PD (2.9%; P