Genome-wide analyses identify common variants associated with macular telangiectasia type 2

Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS) with 476 cases and 1,733 controls of European ancestry. Genome-wide significant associations (P < 5 × 10−8) were identified at three independent loci (rs73171800 at 5q14.3, P = 7.74 × 10−17; rs715 at 2q34, P = 9.97 × 10−14; rs477992 at 1p12, P = 2.60 × 10−12) and then replicated (P < 0.01) in an independent cohort of 172 cases and 1,134 controls. The 5q14.3 locus is known to associate with variation in retinal vascular diameter, and the 2q34 and 1p12 loci have been implicated in the glycine/serine metabolic pathway. We subsequently found significant differences in blood serum levels of glycine (P = 4.04 × 10−6) and serine (P = 2.48 × 10−4) between MacTel cases and controls

Voter Information Campaigns and Political Accountability: Cumulative Findings From a Preregistered Meta-analysis of Coordinated Trials

Voters may be unable to hold politicians to account if they lack basic information about their representatives’ performance. Civil society groups and international donors therefore advocate using voter information campaigns to improve democratic accountability. Yet, are these campaigns effective? Limited replication, measurement heterogeneity, and publication biases may undermine the reliability of published research. We implemented a new approach to cumulative learning, coordinating the design of seven randomized controlled trials to be fielded in six countries by independent research teams. Uncommon for multisite trials in the social sciences, we jointly preregistered a meta-analysis of results in advance of seeing the data. We find no evidence overall that typical, nonpartisan voter information campaigns shape voter behavior, although exploratory and subgroup analyses suggest conditions under which informational campaigns could be more effective. Such null estimated effects are too seldom published, yet they can be critical for scientific progress and cumulative, policy-relevant learning.FSW – Publicaties zonder aanstelling Universiteit Leide

Integrated Service Engineering (ISE) Framework: Development of Business Services for Ecosystems in the Internet of Services

This book introduces the basic principles of the Integrated Service Engineering (ISE) framework which is one result of the THESEUS/TEXO project. Firstly, the elementary approaches in the "Internet of Services" are addressed, along with current trends in their development and usage from the viewpoint of IT providers. Secondly, the structures and elements of service lifecycles and their management are described and compared in order to specify which phases of the service lifecycle are covered by ISE. Thirdly, the overall structure of the ISE approach is explained which forms the core of the book. Then, methods and models for the innovation, strategic, conceptual and logical perspectives are shown in further detail. These methods and models are considered as proposals and illustrate the application of ISE. Finally, the use case of a service in the IT outsourcing domain is shown which demonstrates how ISE (the first two perspectives) can be applied in a practical context