SynthesisPloS one2012
Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease.
Synthesis in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Rethinking 'rare'Journal of Parkinson's disease · 2025Pooled it
- A genome-wide association study of young onset Parkinson's disease in European ancestry.medRxiv : the preprint server for health sciences · 2026Article
- Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Genome-wide association analyses reveal susceptibility variants linked to Parkinson's disease in the South African population using inferred global and local ancestry.medRxiv : the preprint server for health sciences · 2025Article
- A genomic tale of inbreeding in western Mediterranean human populations.Human genetics · 2025Article
- Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.medRxiv : the preprint server for health sciences · 2025Article
- AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics.Computational and structural biotechnology journal · 2020Article
- Regions of homozygosity as risk factors for multiple myeloma.Annals of human genetics · 2019Article
- Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project.American journal of human genetics · 2018Article
- Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.BMC genomics · 2017Article
- Genome-wide homozygosity signature and risk of Hodgkin lymphoma.Scientific reports · 2015Article
- Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Detecting inbreeding depression for reproductive traits in Iberian pigs using genome-wide data.Genetics, selection, evolution : GSE · 2015Article
- Genome-wide estimates of inbreeding in unrelated individuals and their association with cognitive ability.European journal of human genetics : EJHG · 2014Article
- Recent advances in Parkinson’s disease genetics.Journal of neurology · 2014Review
- Association studies of sporadic Parkinson's disease in the genomic era.Current genomics · 2014Article
- Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
Parkinson's disease (PD) occurs in both familial and sporadic forms, and both monogenic and complex genetic factors have been identified. Early onset PD (EOPD) is particularly associated with autosomal recessive (AR) mutations, and three genes, PARK2, PARK7 and PINK1, have been found to carry mutations leading to AR disease. Since mutations in these genes account for less than 10% of EOPD patients, we hypothesized that further recessive genetic factors are involved in this disorder, which may appear in extended runs of homozygosity.We carried out genome wide SNP genotyping to look for extended runs of homozygosity (ROHs) in 1,445 EOPD cases and 6,987 controls. Logistic regression analyses showed an increased level of genomic homozygosity in EOPD cases compared to controls. These differences are larger for ROH of 9 Mb and above, where there is a more than three-fold increase in the proportion of cases carrying a ROH. These differences are not explained by occult recessive mutations at existing loci. Controlling for genome wide homozygosity in logistic regression analyses increased the differences between cases and controls, indicating that in EOPD cases ROHs do not simply relate to genome wide measures of inbreeding. Homozygosity at a locus on chromosome19p13.3 was identified as being more common in EOPD cases as compared to controls. Sequencing analysis of genes and predicted transcripts within this locus failed to identify a novel mutation causing EOPD in our cohort.There is an increased rate of genome wide homozygosity in EOPD, as measured by an increase in ROHs. These ROHs are a signature of inbreeding and do not necessarily harbour disease-causing genetic variants. Although there might be other regions of interest apart from chromosome 19p13.3, we lack the power to detect them with this analysis.
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Registered trials
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