帕金森病中葡萄糖脑苷脂酶（GBA）突变的外显率：一项近亲队列研究。
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study.
机构信息
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Torino, Italy.
Unit of Medical Statistics and Epidemiology, Department of Translational Medicine, University of Eastern Piedmont, Novara, Italy, and CPO-Piedmont, Novara, Italy.
出版信息
Mov Disord. 2020 Nov;35(11):2111-2114. doi: 10.1002/mds.28200. Epub 2020 Aug 7.
BACKGROUND
Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is variable (10%-30%), depends on the population studied, and has only been assessed in Gaucher disease or familial PD. The aim of this study was to assess the penetrance of glucocerebrosidase mutations in PD in unselected PD patients.
METHODS
The penetrance of glucocerebrosidase mutations was estimated using the kin-cohort method.
RESULTS
Data on family history were available for 63 of 123 PD glucocerebrosidase mutation carriers, identified among 2843 unrelated consecutive PD patients. Three hundred eighty-one first-degree relatives were analyzed. The risk of developing PD was 10% at 60 years, 16% at 70 years, and 19% at 80 years.
CONCLUSIONS
The estimated penetrance of glucocerebrosidase mutations in unselected PD patients is higher than that estimated in Gaucher disease cohorts and lower than that estimated in familial PD cohorts. © 2020 International Parkinson and Movement Disorder Society.
背景
纯合葡萄糖脑苷脂酶突变导致戈谢病，而杂合突变是帕金森病（PD）的最重要遗传风险因素。杂合葡萄糖脑苷脂酶突变对 PD 的外显率是可变的（10%-30%），取决于所研究的人群，并且仅在戈谢病或家族性 PD 中进行了评估。本研究旨在评估未选择的 PD 患者中葡萄糖脑苷脂酶突变对 PD 的外显率。
方法
使用亲缘队列法估计葡萄糖脑苷脂酶突变的外显率。
结果
在 2843 例无关的连续 PD 患者中，确定了 123 例 PD 葡萄糖脑苷脂酶突变携带者，其中 63 例有家族史数据。分析了 381 名一级亲属。60 岁时 PD 的发病风险为 10%，70 岁时为 16%，80 岁时为 19%。
结论
在未选择的 PD 患者中，估计葡萄糖脑苷脂酶突变的外显率高于戈谢病队列中的估计值，低于家族性 PD 队列中的估计值。© 2020 国际帕金森病和运动障碍学会。
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