Replication of association between ELAVL4 and Parkinson disease: the GenePD study
Open accessAbstract
Genetic variants in embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) have been reported to be associated with onset age of Parkinson disease (PD) or risk for PD affection in Caucasian populations. In the current study we genotyped three single nucleotide polymorphisms in ELAVL4 in a Caucasian study sample consisting of 712 PD patients and 312 unrelated controls from the GenePD study. The minor allele of rs967582 was associated with increased risk of PD (odds ratio = 1.46, nominal P value = 0.011) in the GenePD population. The minor allele of rs967582 was also the risk allele for PD affection or earlier onset age in the previously studied populations. This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene.
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The rs967582 SNP is associated with increased risk of PD in a Caucasian population.
“Last, a subsequent study employed samples from a Caucasian population to confirm that the rs967582 SNP is associated with increased risk of PD (DeStefano et al. 2008).”
From Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction (2013) · cites this paper as DeStefano et al. 2008
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 DeStefano et al. 2008
Cites
Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease
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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
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
- DeStefano, A. L., Latourelle, J., Lew, M. F., Suchowersky, O., Klein, C., Golbe, L. I., Mark, M. H., Growdon, J. H., Wooten, G. F., Watts, R., Guttman, M., Racette, B. A., Perlmutter, J. S., Marlor, L., Shill, H. A., Singer, C., Goldwurm, S., Pezzoli, G., Saint-Hilaire, M. H., Hendricks, A. E., Gower, A., Williamson, S., Nagle, M. W., Wilk, J. B., Massood, T., Huskey, K. W., Baker, K. B., Itin, I., Litvan, I., Nicholson, G., Corbett, A., Nance, M., Drasby, E., Isaacson, S., Burn, D. J., Chinnery, P. F., Pramstaller, P. P., Al-hinti, J., Moller, A. T., Ostergaard, K., Sherman, S. J., Roxburgh, R., Snow, B., Slevin, J. T., Cambi, F., Gusella, J. F., & Myers, R. H.
- Affiliations
- Boston University (US)
- University of Southern California (US)
- University of Calgary (CA)
- University of Lübeck (DE)
- University of Medicine and Dentistry of New Jersey (US)
- Massachusetts General Hospital (US)
- University of Alabama at Birmingham (US)
- University of Toronto (CA)
- Washington University in St. Louis (US)
- Barrow Neurological Institute (US)
- University of Miami (US)
- Istituti Clinici di Perfezionamento (IT)
- Cleveland Clinic (US)
- University of Louisville (US)
- The University of Sydney (AU)
- Newcastle University (GB)
- Ospedale di Bolzano (IT)
- University of Arizona (US)
- Auckland City Hospital (NZ)
- University of Kentucky (US)
- Harvard University (US)
- Corresponding author
- DeStefano, Anita L.
- ORCID
- DeStefano, Anita L.
- Latourelle, Jeanne
- Lew, Mark F.
- Suchowersky, Oksana
- Klein, Christine
- Golbe, Lawrence I.
- Racette, Brad A.
- Perlmutter, Joel S.
- Shill, Holly A.
- Singer, Carlos
- Goldwurm, Stefano
- Pezzoli, Gianni
- Hendricks, Audrey E.
- Gower, Adam
- Nagle, Michael W.
- Baker, Kenneth B.
- Itin, Ilia
- Litvan, Irene
- Nicholson, Garth
- Nance, Martha
- Isaacson, Stuart
- Burn, David J.
- Chinnery, Patrick F.
- Pramstaller, Peter P.
- Roxburgh, Richard
- Slevin, John T.
- Cambi, Franca
- Gusella, James F.
- Myers, Richard H.
- Venue
- Human Genetics
- Published
- 2008-06-29
- Volume
- 124
- Issue
- 1
- Pages
- 95-99
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- PMC
- PMC2716559
- OpenAlex
- W1966217137
- Cited by
- 40
- References
- 1
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 1 · 2023: 2 · 2022: 3 · 2021: 2 · 2020: 4 · 2018: 3 · 2017: 2 · 2016: 3 · 2014: 1 · 2013: 3 · 2012: 2
- FWCI
- 2.13
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion)
- Open Research (University of Surrey) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Fondazione Telethon (GTB07001)
- National Institute of Neurological Disorders and Stroke (R01NS036711, R0-1 NS36711-05, R01NS050425, R01NS041509, R01NS058714)
- 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, genetic susceptibility, single nucleotide polymorphisms, age of onset, replication study, Caucasian population
- MeSH terms
- ELAV-Like Protein 4, Aged, Female, Gene Frequency, Humans, Genetic Linkage, Male, Middle Aged, Parkinson Disease, Polymorphism, Genetic, Meta-Analysis as Topic, Cohort Studies, Age of Onset, Genetic Predisposition to Disease, Databases, Genetic, ELAV Proteins
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