RT Journal Article
T1 Genetics of Parkinson's disease: An introspection of its journey towards precision medicine.
A1 Bandres-Ciga, Sara
A1 Diez-Fairen, Monica
A1 Kim, Jonggeol Jeff
A1 Singleton, Andrew B
K1 Genetics
K1 Parkinson's disease
K1 Post-GWAS era
K1 Risk
AB A substantial proportion of risk for Parkinson's disease (PD) is driven by genetics. Progress in understanding the genetic basis of PD has been significant. So far, highly-penetrant rare genetic alterations in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1 and GBA have been linked with typical familial PD and common genetic variability at 90 loci have been linked to risk for PD. In this review, we outline the journey thus far of PD genetics, highlighting how significant advances have improved our knowledge of the genetic basis of PD risk, onset and progression. Despite remarkable progress, our field has yet to unravel how genetic risk variants disrupt biological pathways and molecular networks underlying the pathobiology of the disease. We highlight that currently identified genetic risk factors only represent a fraction of the likely genetic risk for PD. Identifying the remaining genetic risk will require us to diversify our efforts, performing genetic studies across different ancestral groups. This work will inform us on the varied genetic basis of disease across populations and also aid in fine mapping discovered loci. If we are able to take this course, we foresee that genetic discoveries in PD will directly influence our ability to predict disease and aid in defining etiological subtypes, critical steps for the implementation of precision medicine for PD.
PB Academic Press
YR 2020
FD 2020-01-24
LK http://hdl.handle.net/10668/15010
UL http://hdl.handle.net/10668/15010
LA en
NO Bandres-Ciga S, Diez-Fairen M, Kim JJ, Singleton AB. Genetics of Parkinson's disease: An introspection of its journey towards precision medicine. Neurobiol Dis. 2020 Apr;137:104782.
NO This research was supported, in part, by the Intramural Research Program of the National Institutes of Health (National Institute on Aging, National Institute of Neurological Disorders and Stroke; project numbers: project numbers 1ZIA‐NS003154, Z01‐AG000949‐02, and Z01‐ES101986). In addition, this work was supported by the Department of Defense (award W81XWH‐09‐2‐0128) and The Michael J. Fox Foundation for Parkinson's Research.
DS RISalud
RD Apr 7, 2025