ELAVL4与帕金森病之间关联的重复验证：GenePD研究
Replication of association between ELAVL4 and Parkinson disease: the GenePD study.
作者信息
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
机构信息
Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Crosstown Center, 3rd floor, Boston, MA 02118, USA.
出版信息
Hum Genet. 2008 Aug;124(1):95-9. doi: 10.1007/s00439-008-0526-4. Epub 2008 Jun 29.
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 GenePD study. The minor allele of rs967582 was associated with increased risk of PD (odds ratio = 1.46, nominal P value = 0.011) in the GenePD 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.
据报道，胚胎致死、视力异常、果蝇样4（ELAVL4）基因变异与白种人群中帕金森病（PD）的发病年龄或患病风险相关。在本研究中，我们对来自GenePD研究的712例PD患者和312例无关对照组成的白种人研究样本中的ELAVL4基因的三个单核苷酸多态性进行了基因分型。在GenePD人群中，rs967582的次要等位基因与PD风险增加相关（优势比=1.46，名义P值=0.011）。rs967582的次要等位基因也是先前研究人群中PD患病或发病年龄较早的风险等位基因。在第三个队列中与rs967582关联的这种重复进一步表明ELAVL4是一个PD易感基因。
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