ArticleJournal of medical genetics2006
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Association between the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1) S18Y variant and Parkinson's Disease: a HuGE review and meta-analysis.American journal of epidemiology · 2009Pooled it
- A guanosine metabolism-bioenergetics intersection drives Parkinson's disease.bioRxiv : the preprint server for biology · 2026Article
- Cilia interactome with predicted protein-protein interactions reveals connections to Alzheimer's disease, aging and other neuropsychiatric processes.Scientific reports · 2020Article
- Sepiapterin reductase gene-disrupted mice suffer from hypertension with fluctuation and bradycardia.Physiological reports · 2017Article
- Epidemiology and etiology of Parkinson's disease: a review of the evidence.European journal of epidemiology · 2011Review
- Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.The application of clinical genetics · 2011Article
- Genes associated with Parkinson syndrome.Journal of neurology · 2008Review
- Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.Movement disorders : official journal of the Movement Disorder Society · 2008Article
- Genome-wide analysis of Rad52 foci reveals diverse mechanisms impacting recombination.PLoS genetics · 2007Article
- Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.Brain research · 2007Article
- Neuroprotection against neurodegenerative diseases: development of a novel hybrid neuroprotective peptide Colivelin.Molecular neurobiology · 2007Review
Corrections and comments
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Authors and funding
17 authors at 12 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundParkinson's disease is a genetically complex disease with mixed mode of inheritance. Recently, a haplotype across the sepiapterin reductase (SPR) gene, which is located in the PARK3 linkage region, was shown to modulate age of onset of Parkinson's disease in sibships from North America.
objectiveTo make a thorough assessment of the SPR gene region in sporadic Parkinson's disease.
methodsA linkage study in 122 European sibship families with five microsatellite and 17 single nucleotide polymorphism (SNP) markers in and around the SPR gene region, and an association analysis in 340 sporadic cases of Parkinson's disease and 680 control subjects from Germany with 40 SNPs. Linkage was evaluated by non-parametric linkage scores and genotypic or haplotype association was tested by regression analysis, assuming different risk effect models.
resultsSignificant LOD scores between 2 and 3 were obtained at the two SPR-flanking markers D2S2110 and D2S1394 and seven SNP markers around the SPR gene. We found the previously reported promoter SNP rs1876487 also significantly associated with age of onset in our sib pair families (p-value 0.02). One strong linkage disequilibrium (LD) block of 45 kb including the entire SPR gene was observed. Within this LD block all 14 inter-correlated SNPs were significantly associated with Parkinson's disease affection status (p-value 0.004).
conclusionsDNA polymorphisms in a highly intercorrelated LD block, which includes the SPR gene, appear to be associated with both sporadic and familial Parkinson's disease. This confirms a previous study showing that SPR potentially modulates the onset of or risk for Parkinson's disease.
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