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

Lookup NU author(s): Professor David BurnORCiD, Professor Patrick Chinnery

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Abstract

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. © Springer-Verlag 2008.


Publication metadata

Author(s): DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint-Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH

Publication type: Article

Publication status: Published

Journal: Human Genetics

Year: 2008

Volume: 124

Issue: 1

Pages: 95-99

ISSN (print): 0340-6717

ISSN (electronic): 1432-1203

Publisher: Springer

URL: http://dx.doi.org/10.1007/s00439-008-0526-4

DOI: 10.1007/s00439-008-0526-4

PubMed id: 18587682


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Funding

Funder referenceFunder name
GTB07001Telethon
R01 NS036711-09NINDS NIH HHS
R01 NS041509NINDS NIH HHS
R01 NS050425NINDS NIH HHS
R01 NS050425-05NINDS NIH HHS
R01 NS058714-03NINDS NIH HHS
R01 NS36711-05NINDS NIH HHS
R01 NS036711NINDS NIH HHS
R01 NS041509-09NINDS NIH HHS
R01 NS058714NINDS NIH HHS

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