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The evolution of genetic variability at the LRRK2 locus

descriptionPublicationkeyboard_double_arrow_right Article , Other literature type 13 Mar 2024Publisher:Springer Science and Business Media LLCJournal:Genes, volume 15, page 878 (eissn: 2073-4425,

Authors: Dylan T. Guenther; Jordan Follett; Rim Amouri; Samia Ben Sassi; Faycel Hentati; Matthew J. Farrer;

doi: 10.21203/rs.3.rs-4001026/v1 , 10.3390/genes15070878

pmid: 39062657

pmc: PMC11275506

The evolution of genetic variability at the LRRK2 locus

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Abstract

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 from 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 age of disease onset (AOO), and provide evidence for its positive selection.

Related Organizations

Florida Southern College
United States
University of Florida
National Institute of Neurology Mongi-Ben Hamida
Tunisia
University of Florida
Finland
Department of Neurology
Netherlands

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Keywords

Male, Adult, Tunisia, Genetic Variation, Parkinson Disease, Middle Aged, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Article, Evolution, Molecular, Haplotypes, Mutation, Humans, Female, Genetic Predisposition to Disease, Age of Onset, Selection, Genetic, Alleles, Aged

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