Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients

Genet Test Mol Biomarkers. 2018 Jun;22(6):398-402. doi: 10.1089/gtmb.2017.0277. Epub 2018 May 29.

Abstract

Aims: Essential tremor (ET) is one of the most common adult-onset movement disorders. ET and Parkinson's disease (PD) overlap clinically and pathologically, which prompted this investigation into the association of PD risk variants in ET patients. This study was designed to explore the role of variants of two PD-related genes LRRK1 and LRRK2 in a Han Chinese ET population.

Materials and methods: Genetic analysis of LRRK1, rs2924835, and LRRK2, rs34594498, rs34410987, and rs33949390 variants was conducted on 200 Han Chinese patients with ET and 434 ethnically matched normal controls.

Results: No statistically significant differences were identified in either genotypic or allelic frequencies of variants between the ET patients and the control cohort (all p > 0.05). Haplotype analysis of three LRRK2 variants (rs34594498, rs34410987, and rs33949390) showed no haplotypes displayed an association with ET risk (all p > 0.05).

Conclusions: The data suggest that LRRK1 variant (rs2924835) and LRRK2 variants (rs34594498, rs34410987, and rs33949390) are not associated with ET in this Han Chinese population.

Keywords: LRRK1 gene; LRRK2 gene; Parkinson's disease; essential tremor; genetic analysis.

MeSH terms

  • Adult
  • Aged
  • Asian People / genetics*
  • Case-Control Studies
  • China
  • Essential Tremor / ethnology
  • Essential Tremor / genetics*
  • Female
  • Haplotypes
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics*
  • Male
  • Middle Aged
  • Parkinson Disease / ethnology
  • Parkinson Disease / genetics
  • Protein Serine-Threonine Kinases / genetics*

Substances

  • LRRK1 protein, human
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases