PDF(Pubmed)
Abstract：
Leucine-rich repeat kinase 2 (LRRK2) c.6055G>A (p.G2019S) is a frequent cause of Parkinson\'s disease (PD), accounting for >30% of Tunisian Arab-Berber patients. LRRK2 is widely expressed in the immune system and its kinase activity confers a survival advantage against infection in animal models. Here, we assess haplotype variability in cis and in trans of the LRRK2 c.6055G>A mutation, define the age of the pathogenic allele, explore its relationship to the age of disease onset (AOO), and provide evidence for its positive selection.
摘要：
富亮氨酸重复激酶2（LRRK2）c.6055G>A（p。G2019S)是帕金森病(PD)的常见原因，占突尼斯阿拉伯柏柏尔患者的30%以上。LRRK2在免疫系统中广泛表达,并且其激酶活性赋予在动物模型中对抗感染的存活优势。这里,我们评估LRRK2c.6055G>A突变的顺式和反式单倍型变异性，定义致病等位基因的年龄，探讨其与疾病发作年龄（AOO）的关系，并为其正向选择提供证据。
