ArticleNeurobiology of aging2016
Genome-wide assessment of Parkinson's disease in a Southern Spanish population.
Article in Neurobiology of aging, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 47 citations in OpenAlex.
- Cellular and systemic modifiers of alpha-synuclein proteostasis.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2026Review
- A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A.NPJ Parkinson's disease · 2025Article
- A zebrafish model of acmsd deficiency does not support a prominent role for ACMSD in Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Clinical and genetic insights of Parkinson's Disease in a Mexican cohort: highlighting Latino's diversity.medRxiv : the preprint server for health sciences · 2025Article
- Case Report: A Case of a Patient with Smith-Magenis Syndrome and Early-Onset Parkinson's Disease.International journal of molecular sciences · 2024Article
- Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson's disease progression.Scientific reports · 2024Article
- Association of polygenic risk score with response to deep brain stimulation in Parkinson's disease.BMC neurology · 2023Article
- 17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease are associated with LRRC37A/2 expression in astrocytes.Molecular neurodegeneration · 2022Article
- Genetic Analysis of Six Transmembrane Protein Family Genes in Parkinson's Disease in a Large Chinese Cohort.Frontiers in aging neuroscience · 2022Article
- Pharmacological validation of TDO as a target for Parkinson's disease.The FEBS journal · 2021Article
- Transmembrane 163 (TMEM163) Protein: A New Member of the Zinc Efflux Transporter Family.Biomedicines · 2021Review
- Replication of chromosomal loci involved in Parkinson's disease: A quantitative synthesis of GWAS.Toxicology reports · 2021Article
- Kynurenine pathway in Parkinson's disease-An update.eNeurologicalSci · 2020Review
- Mining genetic and transcriptomic data using machine learning approaches in Parkinson's disease.NPJ Parkinson's disease · 2020Review
- Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland.Frontiers in neurology · 2020Article
- Genome-wide estimates of heritability and genetic correlations in essential tremor.Parkinsonism & related disorders · 2019Article
- The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.Movement disorders : official journal of the Movement Disorder Society · 2019Article
- Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.Annals of neurology · 2019Article
- Polymorphisms ofParkinson's disease · 2019Article
- A Comprehensive Analysis of Population Differences inFrontiers in aging neuroscience · 2019Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
Abstract
Here, we set out to study the genetic architecture of Parkinson's disease (PD) through a Genome-Wide Association Study in a Southern Spanish population. About 240 PD cases and 192 controls were genotyped on the NeuroX array. We estimated genetic variation associated with PD risk and age at onset (AAO). Risk profile analyses for PD and AAO were performed using a weighted genetic risk score. Total heritability was estimated by genome-wide complex trait analysis. Rare variants were screened with single-variant and burden tests. We also screened for variation in known PD genes. Finally, we explored runs of homozygosity and structural genomic variations. We replicate PD association (uncorrected p-value < 0.05) at the following loci: ACMSD/TMEM163, MAPT, STK39, MIR4697, and SREBF/RAI1. Subjects in the highest genetic risk score quintile showed significantly increased risk of PD versus the lowest quintile (odds ratio = 3.6, p-value < 4e(-7)), but no significant difference in AAO. We found evidence of runs of homozygosity in 2 PD-associated regions: one intersecting the HLA-DQB1 gene in 6 patients and 1 control; and another intersecting the GBA-SYT11 gene in PD case. The GBA N370S and the LRRK2 G2019S variants were found in 8 and 7 cases, respectively, replicating previous work. A structural variant was found in 1 case in the PARK2 gene locus. This current work represents a comprehensive assessment at a genome-wide level characterizing a novel population in PD genetics.
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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.