FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2890124878> ?p ?o ?g. }

• W2890124878 endingPage "1600" @default.
• W2890124878 startingPage "1591" @default.
• W2890124878 abstract "ABSTRACT Background : Mitochondrial dysfunction plays a key role in PD, but the underlying molecular mechanisms remain unresolved. We hypothesized that the disruption of mitochondrial function in PD is primed by rare, protein‐altering variation in nuclear genes controlling mitochondrial structure and function. Objective : The objective of this study was to assess whether genetic variation in genes associated with mitochondrial function influences the risk of idiopathic PD. Methods : We employed whole‐exome sequencing data from 2 independent cohorts of clinically validated idiopathic PD and controls, the Norwegian ParkWest cohort (n = 411) and the North American Parkinson's Progression Markers Initiative (n = 640). We applied burden‐based and variance‐based collapsing methods to assess the enrichment of rare, nonsynonymous, and damaging genetic variants on genes, exome‐wide, and on a comprehensive set of mitochondrial pathways, defined as groups of genes controlling specific mitochondrial functions. Results : Using the sequence kernel association test, we detected a significant polygenic enrichment of rare, nonsynonymous variants in the gene‐set encoding the pathway of mitochondrial DNA maintenance. Notably, this was the strongest association in both cohorts and survived multiple testing correction (ParkWest P = 6.3 × 10 −3 , Parkinson's Progression Markers Initiative P = 6.9 × 10 −5 , metaanalysis P = 3.2 × 10 −6 ). Conclusions : Our results show that the enrichment of rare inherited variation in the pathway controlling mitochondrial DNA replication and repair influences the risk of PD. We propose that this polygenic enrichment contributes to the impairment of mitochondrial DNA homeostasis, thought to be a key mechanism in the pathogenesis of PD, and explains part of the disorder's “missing heritability.” © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society" @default.
• W2890124878 created "2018-09-27" @default.
• W2890124878 creator A5005553315 @default.
• W2890124878 creator A5005926970 @default.
• W2890124878 creator A5009303573 @default.
• W2890124878 creator A5021148250 @default.
• W2890124878 creator A5024846112 @default.
• W2890124878 creator A5041637399 @default.
• W2890124878 creator A5056068760 @default.
• W2890124878 creator A5071057396 @default.
• W2890124878 creator A5078133264 @default.
• W2890124878 creator A5078279670 @default.
• W2890124878 creator A5078678815 @default.
• W2890124878 creator A5078710962 @default.
• W2890124878 date "2018-09-05" @default.
• W2890124878 modified "2023-10-05" @default.
• W2890124878 title "Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease" @default.
• W2890124878 cites W1547212375 @default.
• W2890124878 cites W1919257374 @default.
• W2890124878 cites W1969347196 @default.
• W2890124878 cites W1984068087 @default.
• W2890124878 cites W1988494453 @default.
• W2890124878 cites W1998490075 @default.
• W2890124878 cites W1999232243 @default.
• W2890124878 cites W2020427316 @default.
• W2890124878 cites W2021343145 @default.
• W2890124878 cites W2033832481 @default.
• W2890124878 cites W2052644460 @default.
• W2890124878 cites W2058401000 @default.
• W2890124878 cites W2096173332 @default.
• W2890124878 cites W2096286148 @default.
• W2890124878 cites W2099085143 @default.
• W2890124878 cites W2103441770 @default.
• W2890124878 cites W2108169091 @default.
• W2890124878 cites W2109141235 @default.
• W2890124878 cites W2110054105 @default.
• W2890124878 cites W2112110541 @default.
• W2890124878 cites W2119180969 @default.
• W2890124878 cites W2127978123 @default.
• W2890124878 cites W2130588024 @default.
• W2890124878 cites W2132297623 @default.
• W2890124878 cites W2136430672 @default.
• W2890124878 cites W2142627549 @default.
• W2890124878 cites W2147698885 @default.
• W2890124878 cites W2149992227 @default.
• W2890124878 cites W2150131459 @default.
• W2890124878 cites W2150634893 @default.
• W2890124878 cites W2154755614 @default.
• W2890124878 cites W2154787098 @default.
• W2890124878 cites W2157752701 @default.
• W2890124878 cites W2160572200 @default.
• W2890124878 cites W2163953557 @default.
• W2890124878 cites W2168126136 @default.
• W2890124878 cites W2168133698 @default.
• W2890124878 cites W2176146180 @default.
• W2890124878 cites W2178663509 @default.
• W2890124878 cites W2180760460 @default.
• W2890124878 cites W2297490604 @default.
• W2890124878 cites W2409361455 @default.
• W2890124878 cites W2555397029 @default.
• W2890124878 cites W2555613116 @default.
• W2890124878 cites W2780351142 @default.
• W2890124878 doi "https://doi.org/10.1002/mds.64" @default.
• W2890124878 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6282592" @default.
• W2890124878 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30256453" @default.
• W2890124878 hasPublicationYear "2018" @default.
• W2890124878 type Work @default.
• W2890124878 sameAs 2890124878 @default.
• W2890124878 citedByCount "44" @default.
• W2890124878 countsByYear W28901248782018 @default.
• W2890124878 countsByYear W28901248782019 @default.
• W2890124878 countsByYear W28901248782020 @default.
• W2890124878 countsByYear W28901248782021 @default.
• W2890124878 countsByYear W28901248782022 @default.
• W2890124878 countsByYear W28901248782023 @default.
• W2890124878 crossrefType "journal-article" @default.
• W2890124878 hasAuthorship W2890124878A5005553315 @default.
• W2890124878 hasAuthorship W2890124878A5005926970 @default.
• W2890124878 hasAuthorship W2890124878A5009303573 @default.
• W2890124878 hasAuthorship W2890124878A5021148250 @default.
• W2890124878 hasAuthorship W2890124878A5024846112 @default.
• W2890124878 hasAuthorship W2890124878A5041637399 @default.
• W2890124878 hasAuthorship W2890124878A5056068760 @default.
• W2890124878 hasAuthorship W2890124878A5071057396 @default.
• W2890124878 hasAuthorship W2890124878A5078133264 @default.
• W2890124878 hasAuthorship W2890124878A5078279670 @default.
• W2890124878 hasAuthorship W2890124878A5078678815 @default.
• W2890124878 hasAuthorship W2890124878A5078710962 @default.
• W2890124878 hasBestOaLocation W28901248781 @default.
• W2890124878 hasConcept C104317684 @default.
• W2890124878 hasConcept C141231307 @default.
• W2890124878 hasConcept C149904235 @default.
• W2890124878 hasConcept C16671776 @default.
• W2890124878 hasConcept C24586158 @default.
• W2890124878 hasConcept C2777614518 @default.
• W2890124878 hasConcept C501734568 @default.
• W2890124878 hasConcept C54355233 @default.
• W2890124878 hasConcept C60644358 @default.

• next