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Abstract
Parkinson's disease is a complex neurodegenerative disorder for which both rare and
common genetic variants contribute to disease risk, onset, and progression. Mutations
in more than 20 genes have been associated with the disease, most of which are highly
penetrant and often cause early onset or atypical symptoms. Although our understanding
of the genetic basis of Parkinson's disease has advanced considerably, much remains
to be done. Further disease-related common genetic variability remains to be identified
and the work in identifying rare risk alleles has only just begun. To date, genome-wide
association studies have identified 90 independent risk-associated variants. However,
most of them have been identified in patients of European ancestry and we know relatively
little of the genetics of Parkinson's disease in other populations. We have a limited
understanding of the biological functions of the risk alleles that have been identified,
although Parkinson's disease risk variants appear to be in close proximity to known
Parkinson's disease genes and lysosomal-related genes. In the past decade, multiple
efforts have been made to investigate the genetic architecture of Parkinson's disease,
and emerging technologies, such as machine learning, single-cell RNA sequencing, and
high-throughput screens, will improve our understanding of genetic risk.