The genetic architecture of Parkinson's disease

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 o...

Celý popis

Uloženo v:

Podrobná bibliografie
Vydáno v:	Lancet neurology Ročník 19; číslo 2; s. 170 - 178
Hlavní autoři:	Blauwendraat, Cornelis, Nalls, Mike A, Singleton, Andrew B
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England Elsevier Ltd 01.02.2020 Elsevier Limited
Témata:	Alleles Dementia - genetics Deoxyribonucleic acid Disease Progression DNA Genes Genetic diversity Genetic Predisposition to Disease - genetics Genetic variability Genetics Genome-wide association studies Genome-Wide Association Study Genomes Humans Kinases Learning algorithms Movement disorders Mutation Mutation - genetics Neurodegenerative diseases Neurodegenerative Diseases - diagnosis Neurodegenerative Diseases - genetics Parkinson Disease - diagnosis Parkinson Disease - genetics Parkinson's disease Ribonucleic acid Risk Factors RNA
ISSN:	1474-4422, 1474-4465, 1474-4465
On-line přístup:	Získat plný text
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Popis
Shrnutí:	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.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23 CB, MAN, and ABS wrote the manuscript and all authors were responsible for its review and critique. Contributors
ISSN:	1474-4422 1474-4465 1474-4465
DOI:	10.1016/S1474-4422(19)30287-X