du Toit Nicola, van Coller Riaan, Anderson David G, Carr Jonathan, Bardien Soraya
Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Department of Neurology, School of Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.
Neurogenetics. 2019 Oct;20(4):215-218. doi: 10.1007/s10048-019-00588-z. Epub 2019 Sep 6.
G2019S in LRRK2 is the most common mutation associated with Parkinson's disease (PD). Highest frequencies are in North African Arabic (30-41%) and Ashkenazi Jewish (6-30%) populations, mostly due to founder effects. Here, we investigated the frequency of G2019S in 647 unrelated South African PD patients from different ancestral origins. It was found in only 1.2% (8/647) of patients. Notably, none of the 91 individuals of African ancestry had G2019S. It was present in 1.9% (3/154) and 1% (5/493) of early- and late-onset cases, respectively. The frequency of G2019S exhibits ethnic-specific differences and warrants further study in sub-Saharan African populations.
LRRK2基因中的G2019S是与帕金森病（PD）相关的最常见突变。在北非阿拉伯人群（30 - 41%）和阿什肯纳兹犹太人群（6 - 30%）中频率最高，这主要归因于奠基者效应。在此，我们调查了647名来自不同祖籍的无亲缘关系的南非PD患者中G2019S的频率。仅在1.2%（8/647）的患者中发现该突变。值得注意的是，91名非洲裔个体中均无G2019S突变。它分别在早发和晚发病例中占1.9%（3/154）和1%（5/493）。G2019S的频率存在种族特异性差异，值得在撒哈拉以南非洲人群中进一步研究。
