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.
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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.’’