Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease

Neurogenetics. 2019 Oct;20(4):215-218. doi: 10.1007/s10048-019-00588-z. Epub 2019 Sep 6.

Abstract

G2019S in LRRK2 is the most common mutation associated with Parkinson's disease (PD). Highest frequencies are in North African Arabic (30-41%) and Ashkenazi Jewish (6-30%) populations, mostly due to founder effects. Here, we investigated the frequency of G2019S in 647 unrelated South African PD patients from different ancestral origins. It was found in only 1.2% (8/647) of patients. Notably, none of the 91 individuals of African ancestry had G2019S. It was present in 1.9% (3/154) and 1% (5/493) of early- and late-onset cases, respectively. The frequency of G2019S exhibits ethnic-specific differences and warrants further study in sub-Saharan African populations.

Keywords: G2019S mutation; LRRK2 gene; Parkinson’s disease; Phenotype; South African patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Female
  • Gene Frequency
  • Heterozygote
  • Homozygote
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Parkinson Disease / ethnology
  • Parkinson Disease / genetics*
  • Polymerase Chain Reaction
  • South Africa

Substances

  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2