Graves' disease is a common autoimmune disorder characterized by thyroid stimulating hormone receptor autoantibodies (TRAb) and hyperthyroidism. To investigate the genetic architecture of Graves' disease, we conducted a genome-wide association study in 1,536 individuals with Graves' disease (cases) and 1,516 controls. We further evaluated a group of associated SNPs in a second set of 3,994 cases and 3,510 controls. We confirmed four previously reported loci (in the major histocompatibility complex, TSHR, CTLA4 and FCRL3) and identified two new susceptibility loci (the RNASET2-FGFR1OP-CCR6 region at 6q27 (P(combined) = 6.85 × 10(-10) for rs9355610) and an intergenic region at 4p14 (P(combined) = 1.08 × 10(-13) for rs6832151)). These newly associated SNPs were correlated with the expression levels of RNASET2 at 6q27, of CHRNA9 and of a previously uncharacterized gene at 4p14, respectively. Moreover, we identified strong associations of TSHR and major histocompatibility complex class II variants with persistently TRAb-positive Graves' disease.

We describe the evolution of the Entities, Relations and Events (ERE) annotation task, created to support research and technology development within the DARPA DEFT program. We begin by describing the specification for Light ERE annotation, including the motivation for the task within the context of DEFT. We discuss the transition from Light ERE to a more complex Rich ERE specification, enabling more comprehensive treatment of phenomena of interest to DEFT.

BackgroundTriglycerides (TG) to high-density lipoprotein cholesterol (HDL-C) ratio (TG/HDL-C) has been recommended as a surrogate marker for insulin resistance. In the present study, we aimed to investigate the relationship between TG/HDL-C and NAFLD in an apparently healthy population.MethodsA total of 18,061 subjects who participated in a health checkup program were included. NAFLD was diagnosed by ultrasonography.ResultsThe prevalence rate of NAFLD was 24.8% in the whole population, and progressively increased across the quartiles of TG/HDL-C (4.9, 14.1, 26.8 and 53.5%, respectively, P <  0.001). After adjustment for confounding factors, TG/HDL-C was independently associated with the risk of NAFLD. Compared with the first quartile of TG/HDL-C (Q1), the odds ratios (95% confidence intervals) for NAFLD in the increasing quartiles (Q2-Q4) were 2.1(1.8–2.6), 3.6 (3.0–4.3) and 9.2(7.6–11.1), respectively. In addition, the area under receiver operator characteristic curve (95% confidence interval) of TG/HDL-C for NAFLD was 0.85 (0.84–0.86) in women and 0.79 (0.78–0.80) in men, significantly higher than that of TG, TC, LDL-C, HDL-C, ALT and AST (P <  0.05). The optimal cutoff point of TG/HDL-C for detection of NAFLD was 0.9 in women (sensitivity = 78.8%, specificity = 77.3%) and 1.4 in men (sensitivity = 70.7%, specificity = 73.5%).ConclusionsTG/HDL-C is independently associated with NAFLD in apparently healthy individuals and may be used as a surrogate for NAFLD.

The resurgence of effort within computational semantics has led to increased interest in various types of relation extraction and semantic parsing. While various manually annotated resources exist for enabling this work, these materials have been developed with different standards and goals in mind. In an effort to develop better general understanding across these resources, we provide a summary overview of the standards underlying ACE, ERE, TAC-KBP Slot-filling, and FrameNet.1 Overview ACE and ERE are comprehensive annotation standards that aim to consistently annotate Entities, Events, and Relations within a variety of documents. The ACE (Automatic Content Extraction) standard was developed by NIST in 1999 and has evolved over time to support different evaluation cycles, the last evaluation having occurred in 2008. The ERE (Entities, Relations, Events) standard was created under the DARPA DEFT program as a lighter-weight version of ACE with the goal of making annotation easier, and more consistent across annotators. ERE attempts to achieve this goal by consolidating some of the annotation type distinctions that were found to be the most problematic in ACE, as well as removing some more complex annotation features.This paper provides an overview of the relationship between these two standards and compares them to the more restricted standard of the TAC-KBP slot-filling task and the more expansive standard of FrameNet. Sections 3 and 4 examine Relations and Events in the ACE/ERE standards, section 5 looks at TAC-KBP slot-filling, and section 6 compares FrameNet to the other standards. ACE and ERE Entity TaggingMany of the differences in Relations and Events annotation across the ACE and ERE standards stem from differences in entity mention tagging. This is simply because Relation and Event tagging relies on the distinctions established in the entity tagging portion of the annotation process. For example, since ERE collapses the ACE Facility and Location Types, any ACE Relation or Event that relied on that distinction is revised in ERE. These top-level differences are worth keeping in mind when considering how Events and Relations tagging is approached in ACE and ERE: