Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI)
作者： Singleton AB Nalls MA , Keller MF , Hernandez DG , Chen L , Stone DJ
DOI: 10.1002/MDS.26374
关键词:
摘要: Background The Parkinson's Progression Marker Initiative is an international multicenter study whose main goal investigating markers for disease (PD) progression as part of a path to treatment the disease. This manuscript describes baseline genetic architecture this study, providing not only catalog disease-linked variants and mutations, but also quantitative measures with which adjust population structure. Methods Three hundred eighty-three newly diagnosed typical PD cases, 65 atypical 178 healthy controls, from have been genotyped on NeuroX or Immunochip arrays. These data are freely available all researchers interested in pursuing research within Initiative. Results The represents low heterogeneity. We recapitulate known associations large-scale genome-wide association studies refine risk score models predictability (area under curve, ∼0.74). show presence six LRRK2 p.G2019S nine GBA p.N370S mutation carriers. Conclusions The its useful biomarkers. The described here will be analysis myriad biological clinical traits study. © 2015 International Parkinson Movement Disorder Society
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