Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations

Parkinsonism Relat Disord. 2020 Apr:73:16-18. doi: 10.1016/j.parkreldis.2020.03.008. Epub 2020 Mar 12.

Abstract

We aimed to replicate a recent study that found a high frequency of the GBA p.K198E mutant in Colombian patients with PD. We identified the p.K198E substitution at a lower frequency in our cohort of Colombians with PD (2.1%), and this was not significantly different than controls (1.7%, P = 0.86) emphasizing the need for larger genetic studies in Latin America.

Keywords: GBA; Gaucher's disease; Genetics; Parkinson's disease.

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Colombia / ethnology
  • Female
  • Glucosylceramidase / genetics*
  • Hispanic or Latino / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Parkinson Disease / ethnology
  • Parkinson Disease / genetics*
  • United States / ethnology

Substances

  • GBA protein, human
  • Glucosylceramidase