The Evolution of Genetic Variability at the LRRK2 Locus

被引：1
|
作者：
Guenther, Dylan T. [1 ]
Follett, Jordan [1 ]
Amouri, Rim [2 ]
Ben Sassi, Samia [2 ]
Hentati, Faycel [2 ]
Farrer, Matthew J. [1 ]
机构：
[1] Univ Florida, Dept Neurol, Gainesville, FL 32610 USA
[2] Mongi Ben Hamida Natl Inst Neurol, Ave Rabta, Tunis 1007, Tunisia
来源：
GENES | 2024年 / 15卷 / 07期
关键词：
LRRK2; Parkinson's disease; evolution; PARKINSONS-DISEASE; SUSCEPTIBILITY LOCI; COMMON FOUNDER; KINASE LRRK2; G2019S; ASSOCIATION; GENOME; FAMILIES; METAANALYSIS; MUTATIONS;
D O I：
10.3390/genes15070878
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页数：10
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