Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).
Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).
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DOI：
10.1002/mds.26374
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发表时间：
2016-01
期刊：
影响因子：
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通讯作者：
Parkinson's Progression Marker Initiative (PPMI) investigators
中科院分区：
文献类型：
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作者：
Nalls MA;Keller MF;Hernandez DG;Chen L;Stone DJ;Singleton AB;Parkinson's Progression Marker Initiative (PPMI) investigators
帕金森病进展标记计划是一项国际多中心研究，其主要目标是研究帕金森病 (PD) 进展标记物，作为治疗该疾病的途径的一部分。这份手稿描述了本研究的基线遗传结构，不仅提供了疾病相关变异和突变的目录，还提供了用于调整人口结构的定量措施。帕金森病进展标记计划研究中的 383 名新诊断的典型帕金森病病例、65 名非典型帕金森病患者和 178 名健康对照已在 NeuroX 和/或免疫芯片阵列上进行了基因分型。这些数据可免费提供给所有有兴趣在帕金森病进展标记计划内进行帕金森病研究的研究人员。帕金森病进展标记计划代表了遗传异质性较低的研究人群。我们概括了大规模全基因组关联研究中已知的 PD 关联，并完善了 PD 可预测性的遗传风险评分模型（曲线下面积 ~ 0.74）。我们显示存在 6 个 LRRK2 p.G2019S 和 9 个 GBA p.N370S 突变携带者。帕金森病进展标记计划研究及其遗传数据对于帕金森病生物标记物的研究非常有用。这里描述的遗传结构将有助于分析本研究中的无数生物学和临床特征。
The Parkinson’s Progression Marker Initiative is an international multi-center study whose main goal is investigating markers for Parkinson’s disease (PD) progression as part of a path to a treatment for the disease. This manuscript describes the baseline genetic architecture of this study, providing not only a catalog of disease linked variants and mutations, but also quantitative measures with which to adjust for population structure. 383 newly-diagnosed typical PD cases, 65 atypical PD and 178 healthy controls from the Parkinson’s Progression Marker Initiative study have been genotyped on the NeuroX and/or Immunochip arrays. This data is freely available to all researchers interested in pursuing PD research within the Parkinson’s Progression Marker Initiative. Parkinson’s Progression Marker Initiative represents a study population with low genetic heterogeneity. We recapitulate known PD associations from large-scale genome-wide association studies and refine genetic risk score models for PD predictability (area under the curve ~ 0.74). We show the presence of 6 LRRK2 p.G2019S and 9 GBA p.N370S mutation carriers. The Parkinson’s Progression Marker Initiative study and its genetic data are useful in studies of PD biomarkers. The genetic architecture described here will be useful in the analysis of myriad biological and clinical traits within this study.