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  • The Evolution of Genetic Va...
    Guenther, Dylan T; Follett, Jordan; Amouri, Rim; Sassi, Samia Ben; Hentati, Faycel; Farrer, Matthew J

    Genes, 07/2024, Volume: 15, Issue: 7
    Journal Article

    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.