Replication of association between ELAVL4 and Parkinson disease: The Gene PD study

Anita L. DeStefano, Jeanne Latourelle, Mark F. Lew, Oksana Suchowersky, Christine Klein, Lawrence I. Golbe, Margery H. Mark, John H. Growdon, G. Fredrick Wooten, Ray Watts, Mark Guttman, Brad A. Racette, Joel S. Perlmutter, Lynn Marlor, Holly A. Shill, Carlos Singer, Stefano Goldwurm, Gianni Pezzoli, Marie H. Saint-Hilaire, Audrey E. HendricksAdam Gower, Sally Williamson, Michael W. Nagle, Jemma B. Wilk, Tiffany Massood, Karen W. Huskey, Kenneth B. Baker, Ilia Itin, Irene Litvan, Garth Nicholson, Alastair Corbett, Martha Nance, Edward Drasby, Stuart Isaacson, David J. Burn, Patrick F. Chinnery, Peter P. Pramstaller, Jomana Al-hinti, Anette T. Moller, Karen Ostergaard, Scott J. Sherman, Richard Roxburgh, Barry Snow, John T. Slevin, Franca Cambi, James F. Gusella, Richard H. Myers

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


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 Gene PD study. The minor allele of rs967582 was associated with increased risk of PD (odds ratio = 1.46, nominal P value = 0.011) in the Gene PD 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.

Original languageEnglish
Pages (from-to)95-99
Number of pages5
JournalHuman Genetics
Issue number1
StatePublished - Aug 2008

Bibliographical note

Funding Information:
Acknowledgments This study was supported by PHS grant R01 NS36711-05 ‘‘Genetic Linkage Study in PD’’ and the Bumpus Foundation. The DNA samples contributed by the Parkinson Institute—Istituti Clinici di Perfezionamento, Milan, Italy, were from the ‘‘Human genetic bank of patients affected by PD and parkinsonisms,’’ supported by Italian Telethon grant n. GTF04007 and by the ‘‘Fondazione Grigioni per il Morbo di Parkinson.’’

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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