Genomic determinants of motor and cognitive outcomes in Parkinson's disease

Parkinsonism Relat Disord. 2012 Aug;18(7):881-6. doi: 10.1016/j.parkreldis.2012.04.025. Epub 2012 May 30.

Abstract

Background: Little is known regarding genetic factors associated with motor or cognitive outcomes in Parkinson's disease (PD).

Objective: To identify common genetic variants associated with motor and cognitive outcomes in PD.

Methods: The sample consisted of 443 PD cases included in the first genome-wide association study (GWAS) of PD. Methods included telephone interview assessments of motor and cognitive outcomes, a median 9 years following the initial clinical assessments. Analyses included Cox proportional hazard models to study the association of 198,345 single nucleotide polymorphisms (SNPs) with survival free of Hoehn and Yahr stage ≥ 4 (motor outcome), and either TICS-M ≤ 27 or AD-8 ≥ 2 (cognitive outcomes).

Results: The SNP rs10958605 in the C8orf4 gene had the smallest p value in analyses of the motor outcome (HR = 1.81; 95% CI = 1.42-2.31; p = 1.51 × 10(-6)). The SNP rs6482992 in the CLRN3 gene had the smallest p value in analyses of the cognitive outcome (HR = 2.03, 95% CI 1.47-2.79, p = 4.08 × 10(-6)). However, no SNP associations were significant after Bonferroni correction. The C8orf4 gene had small p values for both motor and cognitive outcomes, highlighting inflammation as a possible pathogenesis mechanism for progression in PD.

Conclusions: This study suggests that common variants in several genes may be associated with motor and cognitive outcomes in PD, with biological plausibility.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cognition / physiology*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Motor Activity / genetics
  • Neoplasm Proteins / genetics*
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • CLRN3 protein, human
  • Membrane Proteins
  • Neoplasm Proteins
  • TCIM protein, human