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Cited by 77Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and EpidemiologyNuclear Receptors and Signaling

Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease

Noureddine, Maher A., Qin, Xue-Jun, Oliveira, Sofia A., Skelly, Tara J., van der Walt, Joelle, Hauser, Michael A., Pericak-Vance, Margaret A., Vance, Jeffery M. +1 more·2005·Human Genetics
DOI 10.1007/s00439-005-1259-2
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Abstract

Inflammatory processes have been implicated in the cascade of events that lead to nerve cell death. In the nervous system, a number of genes involved in inflammation pathways are regulated post-transcriptionally via the interaction of their mRNAs with specific RNA-binding Hu proteins, the vertebrate homologues of the Drosophila ELAV (for embryonic lethal abnormal vision). The gene encoding ELAVL4, a member of the Hu family of proteins, is located 2 Mb from the chromosome 1p linkage region peak for age-at-onset (AAO) of Parkinson disease (PD) (LOD = 3.41). Nine single-nucleotide polymorphisms (SNPs) in ELAVL4 were genotyped for 266 multiplex families (1,223 samples). Additional genotyping in 377 singleton families was performed for a subset of five SNPs (SNPs 1-5) that were not in linkage disequilibrium. SNP 2 (located in the first intron of ELAVL4) showed a strong significant association with AAO of PD (P = 0.006), and SNP 5 (a coding SNP in ELAVL4) showed a moderately significant association (P = 0.035). Haplotype analysis revealed that the A-C haplotype at SNPs 2 and 3 has the strongest significant association with AAO (P = 0.0001) among all combinations of two or three loci. The A-C haplotype remained significant for AAO after the inclusion of the C allele at SNP 5 to this haplotype (A-C-C haplotype, P = 0.00018). Although SNP 5 was found to associate with PD risk in the early-onset subset of PD families (at least one affected with AAO <40 years, 60 families), we believe t…

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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 Noureddine et al. 2005

  • Two SNPs (rs967582 and rs2494876) were associated with age at onset of PD in a Caucasian population.

    “The first of these studies genotyped nine SNPs in the HuD gene locus from a Caucasian population and found that two of them, one in the first intron (rs967582) and one in the coding region (rs2494876), were associated with age at onset (AAO) of PD (Noureddine et al. 2005).”

    From Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction (2013) · cites this paper as Noureddine et al. 2005

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Authors
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.
Affiliations
  • Duke Medical Center (US)
  • Duke University (US)
Corresponding author
Li, Yi-Ju
ORCID
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2005-04-13
Volume
117
Issue
1
Pages
27-33
ISSN
  • 0018-7348 (ISSN-L)
  • 0340-6717
  • 1432-1203
DOI
10.1007/s00439-005-1259-2
OpenAlex
W2035151000
Cited by
76
References
44
Citations by year
2026: 2 · 2025: 2 · 2024: 2 · 2023: 2 · 2022: 5 · 2021: 5 · 2020: 5 · 2019: 1 · 2018: 4 · 2017: 1 · 2016: 9 · 2015: 1 · 2014: 3 · 2013: 5 · 2012: 5
FWCI
2.60
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health
  • National Institute of Neurological Disorders and Stroke (R01 NS311530-10, P50NS039764)
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, HU protein, RNA-binding proteins, single nucleotide polymorphisms, haplotype association, genetic modifiers, post-transcriptional regulation, neuroinflammation, early-onset Parkinson disease
MeSH terms
Adult, Aged, Female, Haplotypes, Humans, Genetic Linkage, Male, Middle Aged, Nerve Tissue Proteins, Parkinson Disease, Pedigree, RNA, Messenger, RNA-Binding Proteins, Age of Onset, Polymorphism, Single Nucleotide, ELAV Proteins

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