ArticleScientific reports2021
Allele-specific expression of Parkinson's disease susceptibility genes in human brain.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- The landscape of allele-specific expression in human kidneys.Science advances · 2026Article
- Allele specific expression in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Employing Common Morality to Address Ethical Issues in Genetics Research With Indigenous People: The Ọmọlúàbí Ideology.American journal of biological anthropology · 2026Review
- Multiomics approach identifies dysregulated lipidomic and proteomic networks in Parkinson's disease patients mutated in TMEM175.NPJ Parkinson's disease · 2025Article
- BCKDK loss impairs mitochondrial Complex I activity and drives alpha-synuclein aggregation in models of Parkinson's disease.Acta neuropathologica communications · 2024Article
- Epigenetic Orchestration of Neurodegenerative Disorders: A Possible Target for Curcumin as a Therapeutic.Neurochemical research · 2024Review
- Epigenetic associations ofFrontiers in psychiatry · 2024Article
- Transmembrane Protein 175, a Lysosomal Ion Channel Related to Parkinson's Disease.Biomolecules · 2023Review
- Lewy bodies, iron, inflammation and neuromelanin: pathological aspects underlying Parkinson's disease.Journal of neural transmission (Vienna, Austria : 1996) · 2023Review
- Allele-specific expression analysis for complex genetic phenotypes applied to a unique dilated cardiomyopathy cohort.Scientific reports · 2023Article
- Epigenetic regulation of Parkinson's disease risk variant GPNMB cg17274742 methylation by sex and exercise from Taiwan Biobank.Frontiers in aging neuroscience · 2023Article
- Recombination affects allele-specific expression of deleterious variants in human populations.Science advances · 2022Article
- Favoring Expression of Yak Alleles in Interspecies F1 Hybrids of Cattle and Yak Under High-Altitude Environments.Frontiers in veterinary science · 2022Article
- Review
- Variable Effects of PD-Risk Associated SNPs and Variants in Parkinsonism-Associated Genes on Disease Phenotype in a Community-Based Cohort.Frontiers in neurology · 2021Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies have identified genetic variation in genomic loci associated with susceptibility to Parkinson's disease (PD), the most common neurodegenerative movement disorder worldwide. We used allelic expression profiling of genes located within PD-associated loci to identify cis-regulatory variation affecting gene expression. DNA and RNA were extracted from post-mortem superior frontal gyrus tissue and whole blood samples from PD patients and controls. The relative allelic expression of transcribed SNPs in 12 GWAS risk genes was analysed by real-time qPCR. Allele-specific expression was identified for 9 out of 12 genes tested (GBA, TMEM175, RAB7L1, NUCKS1, MCCC1, BCKDK, ZNF646, LZTS3, and WDHD1) in brain tissue samples. Three genes (GPNMB, STK39 and SIPA1L2) did not show significant allele-specific effects. Allele-specific effects were confirmed in whole blood for three genes (BCKDK, LZTS3 and MCCC1), whereas two genes (RAB7L1 and NUCKS1) showed brain-specific allelic expression. Our study supports the hypothesis that changes to the cis-regulation of gene expression is a major mechanism behind a large proportion of genetic associations in PD. Interestingly, allele-specific expression was also observed for coding variants believed to be causal variants (GBA and TMEM175), indicating that splicing and other regulatory mechanisms may be involved in disease development.
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