Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans

Neurobiol Aging. 2021 May:101:297.e1-297.e4. doi: 10.1016/j.neurobiolaging.2020.10.030. Epub 2020 Nov 2.

Abstract

Recently, a novel variant p.Y314S in UQCRC1 has been implicated as pathogenic in Parkinson's disease (PD). In the present study, we aimed to examine the association of UQCRC1 with PD in large cohorts of European origin. We examined common and rare genetic variation in UQCRC1 using genome-wide association study data from the International Parkinson Disease Genomics Consortium, including 14,671 cases and 17,667 controls, and whole-genome sequencing data from the Accelerating Medicines Partnership-Parkinson's disease initiative, including 1647 patients with PD and 1050 controls. No common variants were consistently associated with PD, and a variety of burden analyses did not reveal an association between rare variants in UQCRC1 and PD. Therefore, our results do not support a major role for UQCRC1 in PD in the European population, and additional studies in other populations are warranted.

Keywords: Genetics; Parkinson disease; UQCRC1.

Publication types

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

MeSH terms

  • Cohort Studies
  • Electron Transport Complex III / genetics*
  • Europe
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation*
  • Genome-Wide Association Study / methods*
  • Humans
  • Male
  • Negative Results*
  • Parkinson Disease / genetics*
  • White People / genetics
  • Whole Genome Sequencing

Substances

  • Electron Transport Complex III