Kara Eleanna, Xiromerisiou Georgia, Spanaki Cleanthe, Bozi Maria, Koutsis Georgios, Panas Marios, Dardiotis Efthimios, Ralli Styliani, Bras Jose, Letson Christopher, Edsall Connor, Pliner Hannah, Arepalli Sampath, Kalinderi Kallirhoe, Fidani Liana, Bostantjopoulou Sevasti, Keller Margaux F, Wood Nicholas W, Hardy John, Houlden Henry, Stefanis Leonidas, Plaitakis Andreas, Hernandez Dena, Hadjigeorgiou Georgios M, Nalls Mike A, Singleton Andrew B
Reta Lila Weston Laboratories and Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Neurobiol Aging. 2014 Feb;35(2):442.e9-442.e16. doi: 10.1016/j.neurobiolaging.2013.07.011. Epub 2013 Sep 27.
Genome-wide association studies (GWAS) have been shown to be a powerful approach to identify risk loci for neurodegenerative diseases. Recent GWAS in Parkinson's disease (PD) have been successful in identifying numerous risk variants pointing to novel pathways potentially implicated in the pathogenesis of PD. Contributing to these GWAS efforts, we performed genotyping of previously identified risk alleles in PD patients and control subjects from Greece. We showed that previously published risk profiles for Northern European and American populations are also applicable to the Greek population. In addition, although our study was largely underpowered to detect individual associations, we replicated 5 of 32 previously published risk variants with nominal p values <0.05. Genome-wide complex trait analysis revealed that known risk loci explain disease risk in 1.27% of Greek PD patients. Collectively, these results indicate that there is likely a substantial genetic component to PD in Greece, similarly to other worldwide populations, that remains to be discovered.
全基因组关联研究（GWAS）已被证明是一种识别神经退行性疾病风险位点的有效方法。最近针对帕金森病（PD）的全基因组关联研究成功识别出众多风险变异，这些变异指向了可能与帕金森病发病机制相关的新途径。为这些全基因组关联研究做出贡献，我们对来自希腊的帕金森病患者和对照受试者中先前确定的风险等位基因进行了基因分型。我们发现，先前公布的针对北欧和美国人群的风险概况也适用于希腊人群。此外，尽管我们的研究在很大程度上缺乏检测个体关联的能力，但我们以名义p值<0.05重复了先前公布的32个风险变异中的5个。全基因组复杂性状分析表明，已知的风险位点在1.27%的希腊帕金森病患者中解释了疾病风险。总体而言，这些结果表明，与世界其他人群类似，希腊帕金森病很可能存在大量尚未被发现的遗传因素。
