ELAVL4, PARK10, and the Celts
Abstract
Genetic variability in ELAVL4 located in the PARK10 locus was recently associated with age-at-onset (AAO) in a series of Parkinson's disease (PD) patients originating from the United States. We examined five markers spanning ELAVL4 in Norwegian, United States, and Irish PD case-control samples. No association was found between the examined markers and AAO or PD in Norwegian or US samples. However, ELAVL4 markers (rs967582 and rs3902720) were significantly associated with susceptibility to PD in our Irish series. Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect.
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Three separate cohort genetic studies have linked single nucleotide polymorphisms (SNPs) within the HuD locus to the development of Parkinson's disease.
“In addition to its potential role in AD, three separate cohort genetic studies have linked single nucleotide polymorphisms (SNPs) within the HuD locus to the development of Parkinson’s disease (PD), a degenerative disorder of the CNS.”
From Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction (2013) · cites this paper as Haugarvoll et al. 2007
Two SNPs (rs967582 and rs3902720) are associated with AAO of PD but only in Irish patient samples, possibly due to a Celtic founder effect.
“A second study analyzed five SNPs in the HuD locus from Norwegian, United States, and Irish PD and control samples and found that two SNPs (rs967582 and rs3902720) are associated with AAO of PD but only in Irish patient samples, possibly due to a Celtic founder effect (Haugarvoll et al. 2007).”
From Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction (2013) · cites this paper as Haugarvoll et al. 2007
Cites
Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease
Noureddine, M. A., Qin, X.-J., Oliveira, S. A., Skelly, T. J., van der Walt, J., Hauser, M. A., Pericak-Vance, M. A., Vance, J. M., & Li, Y.-J. (2005) · Human Genetics · doi:10.1007/s00439-005-1259-2 · Cited by 76 · see citing works
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Epidemiology and etiology of Parkinson's disease: a review of the evidence
Wirdefeldt, K., Adami, H.-O., Cole, P., Trichopoulos, D., & Mandel, J. (2011) · European Journal of Epidemiology · doi:10.1007/s10654-011-9581-6 · Cited by 1,199 · see citing works
Defining a neuron: neuronal ELAV proteins
Pascale, A., Amadio, M., & Quattrone, A. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-007-7017-y · Cited by 158 · see citing works
Bronicki, L. M., & Jasmin, B. J. (2013) · RNA · doi:10.1261/rna.039164.113 · Cited by 126 · see citing works
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RNA–Binding Protein HuD as a Versatile Factor in Neuronal and Non–Neuronal Systems
Jung, M., & Lee, E. K. (2021) · Biology · doi:10.3390/biology10050361 · Cited by 39 · see citing works
- Authors
- Haugarvoll, K., Toft, M., Ross, O. A., Stone, J. T., Heckman, M. G., White, L. R., Lynch, T., Gibson, J. M., Wszolek, Z. K., Uitti, R. J., Aasly, J. O., & Farrer, M. J.
- Affiliations
- Norwegian University of Science and Technology (NO)
- Mayo Clinic in Florida (US)
- University College Dublin (IE)
- Royal Victoria Hospital (GB)
- Corresponding author
- Haugarvoll, Kristoffer
- ORCID
- Venue
- Movement Disorders
- Publisher
- Wiley
- Published
- 2007-03-15
- Volume
- 22
- Issue
- 4
- Pages
- 585-587
- ISSN
- 0885-3185 (ISSN-L)
- 1531-8257
- OpenAlex
- W2074608247
- Cited by
- 26
- References
- 1
- Citations by year
- 2026: 2 · 2025: 1 · 2023: 1 · 2022: 2 · 2021: 1 · 2020: 2 · 2018: 1 · 2016: 1 · 2014: 1 · 2013: 5 · 2012: 2
- FWCI
- 0.93
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Movement Disorders (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (R01AG022579)
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
- Keywords
- ELAVL4, Parkinson's disease, age of onset, genetic susceptibility, founder effect, Celtic ancestry, genetic association
- MeSH terms
- ELAV-Like Protein 4, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Adult, Age Factors, Aged, Aged, 80 and over, Alleles, Female, Genetic Markers, Humans, Genetic Linkage, Male, Middle Aged, Norway, Parkinson Disease, United States, Protein Serine-Threonine Kinases, Point Mutation, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases, ELAV Proteins
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