Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

The Contributions of Phonological Awareness, Alphabet Knowledge, and Letter Writing to Name Writing in Children With Specific Language Impairment and Typically Developing Children

Purpose: Name writing is one aspect of emergent writing that has been used to understand emergent literacy development. Name-writing skills and the relationship of name writing to other emergent literacy skills have not been studied extensively in children with specific language impairment (SLI). Children with SLI consistently demonstrate delays in phonological awareness (PA), alphabet knowledge (AK), print awareness, and emergent writing. The purpose of this study was to examine the contributions of PA, AK, and letter writing to name writing in children with SLI and typically developing (TD) children. Method: Participants were 65 children (22 SLI, 43 TD) with an average age of 53 months. Participants completed the Assessment of Literacy and Language (Lombardino, Lieberman, & Brown, 2005), a letter-writing task, and a name-writing task. Results: Data were analyzed using correlation and mediation modeling. Mediation modeling, a more sophisticated analysis, revealed that PA, AK, and letter writing, in serial, were mediating variables for language status on name writing. Conclusion: Phonemic awareness, AK, and letter writing help to explain the relationship between language status and name writing. These skills should be integrated during treatment, using a horizontal approach with developmentally appropriate activities, particularly for children with SLI