Replication of association between ELAVL4 and Parkinson disease: the GenePD study

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 C...

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Published in:	Human genetics Vol. 124; no. 1; pp. 95 - 99
Main Authors:	DeStefano, Anita L., Latourelle, Jeanne, Lew, Mark F., Suchowersky, Oksana, Klein, Christine, Golbe, Lawrence I., Mark, Margery H., Growdon, John H., Wooten, G. Fredrick, Watts, Ray, Guttman, Mark, Racette, Brad A., Perlmutter, Joel S., Marlor, Lynn, Shill, Holly A., Singer, Carlos, Goldwurm, Stefano, Pezzoli, Gianni, Saint-Hilaire, Marie H., Hendricks, Audrey E., Gower, Adam, Williamson, Sally, Nagle, Michael W., Wilk, Jemma B., Massood, Tiffany, Huskey, Karen W., Baker, Kenneth B., Itin, Ilia, Litvan, Irene, Nicholson, Garth, Corbett, Alastair, Nance, Martha, Drasby, Edward, Isaacson, Stuart, Burn, David J., Chinnery, Patrick F., Pramstaller, Peter P., Al-hinti, Jomana, Moller, Anette T., Ostergaard, Karen, Sherman, Scott J., Roxburgh, Richard, Snow, Barry, Slevin, John T., Cambi, Franca, Gusella, James F., Myers, Richard H.
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer-Verlag 01-08-2008 Springer Springer Nature B.V
Subjects:	Age of Onset Aged Biological and medical sciences Biomedical and Life Sciences Biomedicine Chromosomes Classical genetics, quantitative genetics, hybrids Cohort Studies Databases, Genetic Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease susceptibility Drosophila ELAV Proteins - genetics ELAV Proteins - physiology ELAV-Like Protein 4 Female Fundamental and applied biological sciences. Psychology Gene Frequency Gene Function Genes Genetic aspects Genetic Linkage Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Hospitals Human Human Genetics Humans Insects Male Medical research Medical sciences Medicine Medicine, Experimental Meta-Analysis as Topic Metabolic Diseases Middle Aged Molecular Medicine Mutation Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Neurosciences Original Investigation Parkinson Disease - genetics Parkinson's disease Polymorphism, Genetic Single nucleotide polymorphisms White people Canada United Kingdom > UK United States > US Massachusetts Denmark Italy Aarhus Denmark Parkinson Disease Single Nucleotide Polymorphism Rs967582 Parkinson Disease Patient Parkin Mutation Meta Analysis Nervous system diseases Association Central nervous system disease Parkinson disease Genetics Replication Degenerative disease Cerebral disorder Extrapyramidal syndrome
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Feature-3 ObjectType-Undefined-2
ISSN:	0340-6717 1432-1203
DOI:	10.1007/s00439-008-0526-4