ArticleParkinsonism & related disorders2017
Parkinson's disease susceptibility variants and severity of Lewy body pathology.
Article in Parkinsonism & related disorders, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease.Annals of neurology · 2026Article
- Genome-wide association study of neuropathological features in Lewy body disease.Brain : a journal of neurology · 2025Article
- Lysosomal polygenic risk is associated with the severity of neuropathology in Lewy body disease.Brain : a journal of neurology · 2023Article
- Morphological characteristics differentiate dementia with Lewy bodies from Parkinson disease with and without dementia.Journal of neural transmission (Vienna, Austria : 1996) · 2023Article
- A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci.Genome research · 2022Article
- Transcriptome and Proteome Analysis in LUHMES Cells Overexpressing Alpha-Synuclein.Frontiers in neurology · 2022Article
- Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.Frontiers in aging · 2022Article
- Tau and MAPT genetics in tauopathies and synucleinopathies.Parkinsonism & related disorders · 2021Review
- Significance of cerebral amyloid angiopathy and other co-morbidities in Lewy body diseases.Journal of neural transmission (Vienna, Austria : 1996) · 2021Article
- The genetic architecture of Parkinson's disease.The Lancet. Neurology · 2020Review
- Association of MAPT H1 subhaplotypes with neuropathology of lewy body disease.Movement disorders : official journal of the Movement Disorder Society · 2019Article
- Effect of rs3910105 in the Synuclein Gene on Dopamine Transporter Availability in Healthy Subjects.Yonsei medical journal · 2018Article
- Dementia with Lewy bodies and Parkinson's disease-dementia: current concepts and controversies.Journal of neural transmission (Vienna, Austria : 1996) · 2018Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
introductionMeta-analyses of genome-wide association studies (GWAS) have established common genetic risk factors for clinical Parkinson's disease (PD); however, associations between these risk factors and quantitative neuropathologic markers of disease severity have not been well-studied. This study evaluated associations of nominated variants from the most recent PD GWAS meta-analysis with Lewy body disease (LBD) subtype (brainstem, transitional, or diffuse) and pathologic burden of LB pathology as measured by LB counts in five cortical regions in a series of LBD cases.
methods547 autopsy-confirmed cases of LBD were included and genotyped for 29 different GWAS-nominated PD risk variants. LB counts were measured in middle frontal (MF), superior temporal (ST), inferior parietal (IP), cingulate (CG), and parahippocampal (PH) gyri.
resultsNone of the variants examined were significantly associated with LB counts in any brain region or with LBD subtype after correcting for multiple testing. Nominally significant (P < 0.05) associations with LB counts where the direction of association was in agreement with that observed in the PD GWAS meta-analysis were observed for variants in BCKDK/STX1B (MF, ST, IP) and SNCA (ST). Additionally, MIR4697 and BCKDK/STX1B variants were nominally associated with LBD subtype.
conclusionThe lack of a significant association between PD GWAS variants and severity of LB pathology is consistent with the generally subtle association odds ratios that have been observed in disease-risk analysis. These results also suggest that genetic factors other than the susceptibility loci may determine quantitative neuropathologic outcomes in patients with LBD.
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