Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r =-0.62, P = 5.30 × 10-5) but not between CCT and primary open-angle glaucoma (r =-0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation

Search for jet extinction in the inclusive jet-pT spectrum from proton-proton collisions at s=8 TeV

Published by the American Physical Society under the terms of the Creative Commons Attribution 3.0 License. Further distribution of this work must maintain attribution to the author(s) and the published articles title, journal citation, and DOI.The first search at the LHC for the extinction of QCD jet production is presented, using data collected with the CMS detector corresponding to an integrated luminosity of 10.7  fb−1 of proton-proton collisions at a center-of-mass energy of 8 TeV. The extinction model studied in this analysis is motivated by the search for signatures of strong gravity at the TeV scale (terascale gravity) and assumes the existence of string couplings in the strong-coupling limit. In this limit, the string model predicts the suppression of all high-transverse-momentum standard model processes, including jet production, beyond a certain energy scale. To test this prediction, the measured transverse-momentum spectrum is compared to the theoretical prediction of the standard model. No significant deficit of events is found at high transverse momentum. A 95% confidence level lower limit of 3.3 TeV is set on the extinction mass scale

Is similar the distribution of Chironomidae (Diptera) and Oligochaeta (Annelida, Clitellata) in a river and a lateral fluvial area?

Abstract Numerous factors may affect the pattern of distribution of benthic fauna in a river mouth region and, among the macroinvertebrates, Chironomidae and Oligochaeta are the most abundant groups and most tolerant to environmental changes. Aim The aim of this study was to evaluate the controlling factors of and a possible similarity between Chironomidae and Oligochaeta assemblies at two close sites, the mouth of the Guareí River into the Paranapanema River (São Paulo, Brazil) and its lateral fluvial area. Methods Fauna samples were collected every three months during one year. Water physical and chemical variables and sediment variables were also determined in the same period. Results Both assemblies presented low density variability over time in the lateral area due to sediment characteristics and environmental factors. Taxa Caladomyia, Parachironomus, Pristina sp., Pristina osborni, Bothrioneurum and Opistocysta funiculus were recorded at this site. The Guareí River presented both greater temporal and spatial variations, attributed mainly to a reduction in the water level. Greater organism abundance, especially of Chironomus and Tubificinae, was observed in the river. Conclusions Dissimilarity in temporal and spatial distributions of Chironomidae and Oligochaeta was attributed to peculiar characteristics of the two study sites, a river channel and a lateral area. Reduction in the water level over the year was the main controlling factor of Chironomidae and Oligochaeta richness and density in the river. In the lateral area, the presence and abundance of certain taxa were determined by the nature of the sediment and water physical and chemical variables