Genes (Jul 2024)

The Evolution of Genetic Variability at the <i>LRRK2</i> Locus

  • Dylan T. Guenther,
  • Jordan Follett,
  • Rim Amouri,
  • Samia Ben Sassi,
  • Faycel Hentati,
  • Matthew J. Farrer

DOI
https://doi.org/10.3390/genes15070878
Journal volume & issue
Vol. 15, no. 7
p. 878

Abstract

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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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