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

Publication ,  Journal Article
Noureddine, MA; Qin, X-J; Oliveira, SA; Skelly, TJ; van der Walt, J; Hauser, MA; Pericak-Vance, MA; Vance, JM; Li, Y-J
Published in: Hum Genet
June 2005

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 that it is a by-product of its association with AAO. Taken together, these results suggest a potential role for ELAVL4 as a modifier gene for AAO of PD.

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Published In

Hum Genet

DOI

ISSN

0340-6717

Publication Date

June 2005

Volume

117

Issue

1

Start / End Page

27 / 33

Location

Germany

Related Subject Headings

  • RNA-Binding Proteins
  • RNA, Messenger
  • Polymorphism, Single Nucleotide
  • Pedigree
  • Parkinson Disease
  • Nerve Tissue Proteins
  • Middle Aged
  • Male
  • Humans
  • Haplotypes
 

Citation

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Noureddine, M. A., Qin, X.-J., Oliveira, S. A., Skelly, T. J., van der Walt, J., Hauser, M. A., … Li, Y.-J. (2005). Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease. Hum Genet, 117(1), 27–33. https://doi.org/10.1007/s00439-005-1259-2
Noureddine, Maher A., Xue-Jun Qin, Sofia A. Oliveira, Tara J. Skelly, Joelle van der Walt, Michael A. Hauser, Margaret A. Pericak-Vance, Jeffery M. Vance, and Yi-Ju Li. “Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.Hum Genet 117, no. 1 (June 2005): 27–33. https://doi.org/10.1007/s00439-005-1259-2.
Noureddine MA, Qin X-J, Oliveira SA, Skelly TJ, van der Walt J, Hauser MA, et al. Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease. Hum Genet. 2005 Jun;117(1):27–33.
Noureddine, Maher A., et al. “Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.Hum Genet, vol. 117, no. 1, June 2005, pp. 27–33. Pubmed, doi:10.1007/s00439-005-1259-2.
Noureddine MA, Qin X-J, Oliveira SA, Skelly TJ, van der Walt J, Hauser MA, Pericak-Vance MA, Vance JM, Li Y-J. Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease. Hum Genet. 2005 Jun;117(1):27–33.
Journal cover image

Published In

Hum Genet

DOI

ISSN

0340-6717

Publication Date

June 2005

Volume

117

Issue

1

Start / End Page

27 / 33

Location

Germany

Related Subject Headings

  • RNA-Binding Proteins
  • RNA, Messenger
  • Polymorphism, Single Nucleotide
  • Pedigree
  • Parkinson Disease
  • Nerve Tissue Proteins
  • Middle Aged
  • Male
  • Humans
  • Haplotypes