SynthesisHuman molecular genetics2012
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.
Synthesis in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 127 papers, 12 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
127 citing papers in PubMed, 12 syntheses or guidelines pooled it.
- Common SNCA Genetic Variants and Parkinson's Disease Risk: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2025Pooled it
- Genetic variants associated with idiopathic Parkinson's disease in Latin America: A systematic review.Neurogenetics · 2025Pooled it
- Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk.Brain : a journal of neurology · 2023Pooled it
- PIAS2-mediated blockade of IFN-β signaling: a basis for sporadic Parkinson disease dementia.Molecular psychiatry · 2021Pooled it
- Pooled it
- Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.The Lancet. Neurology · 2019Pooled it
- Genomic convergence of locus-based GWAS meta-analysis identifies AXIN1 as a novel Parkinson's gene.Immunogenetics · 2018Pooled it
- A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.Nature genetics · 2017Pooled it
- Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.Nature genetics · 2014Pooled it
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.Human molecular genetics · 2014Pooled it
- Genetic comorbidities in Parkinson's disease.Human molecular genetics · 2014Pooled it
- A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.Human molecular genetics · 2013Pooled it
- Duration of agricultural pesticide exposure application and Parkinson's disease in California's central valley.Environmental research, health : ERH · 2026Article
- Parkinson's disease-associated alterations in DNA methylation and hydroxymethylation in human brain.NPJ Parkinson's disease · 2025Article
- Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.International journal of molecular sciences · 2025Article
- Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson's disease risk.Brain : a journal of neurology · 2025Article
- Increased burden of rare risk variants across gene expression networks predisposes to sporadic Parkinson's disease.Cell reports · 2025Article
- From cigarettes to compulsions: a longitudinal study in de novo Parkinson's disease.Frontiers in psychology · 2025Article
- Developmental origins of Parkinson's disease risk: perinatal exposure to the organochlorine pesticide dieldrin leads to sex-specific DNA modifications in critical neurodevelopmental pathways in the mouse midbrain.Toxicological sciences : an official journal of the Society of Toxicology · 2024Article
- Review
67 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
32 authors.
Funding
Abstract
Genome-wide association studies (GWASs) have been successful at identifying single-nucleotide polymorphisms (SNPs) highly associated with common traits; however, a great deal of the heritable variation associated with common traits remains unaccounted for within the genome. Genome-wide complex trait analysis (GCTA) is a statistical method that applies a linear mixed model to estimate phenotypic variance of complex traits explained by genome-wide SNPs, including those not associated with the trait in a GWAS. We applied GCTA to 8 cohorts containing 7096 case and 19 455 control individuals of European ancestry in order to examine the missing heritability present in Parkinson's disease (PD). We meta-analyzed our initial results to produce robust heritability estimates for PD types across cohorts. Our results identify 27% (95% CI 17-38, P = 8.08E - 08) phenotypic variance associated with all types of PD, 15% (95% CI -0.2 to 33, P = 0.09) phenotypic variance associated with early-onset PD and 31% (95% CI 17-44, P = 1.34E - 05) phenotypic variance associated with late-onset PD. This is a substantial increase from the genetic variance identified by top GWAS hits alone (between 3 and 5%) and indicates there are substantially more risk loci to be identified. Our results suggest that although GWASs are a useful tool in identifying the most common variants associated with complex disease, a great deal of common variants of small effect remain to be discovered.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.