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

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition

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

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

Introduction to Panel 4 Technology, processes and systems

No abstract availabl

Estimating the Potential of Ride Sharing in Urban Areas: the Milan Metropolitan Area Case Study

In the near future, cities will have to supply innovative and high value-added mobility services, that shall be sustainable in terms of environmental impact, traffic management and energy efficiency. This represents a great challenge: transportation accounts for 20% of the global energy consumption, with a large share in urban areas (around 40% of total transport consumption). One of the most promising solutions to reduce congestion, energy consumption and air pollutants in highly-populated areas is Ride Sharing. Ride Sharing systems aim to bring together travellers with similar itineraries and time schedules, thus providing significant societal and environmental benefits, such as reducing the number of cars used for personal travel and improving the utilization of available seat capacity (also defined “occupancy rate”). This paper examines the impact of Ride Sharing by developing an enhanced transport model in Visum, which takes into account the shareability of passengers mobility patterns. The model is applied to the Milan Metropolitan Area, which represents an interesting test case for two main reasons: first, its high population density and strong transport offer and second, the large amount of information and data available on passengers mobility. The paper assumes an optimal 20% participation rate to Ride Sharing and estimates its benefits in terms of congestion reduction, energy efficiency and environmental impact. The COPERT software is used to estimate Carbon Dioxide emissions and fuel consumption savings. The simulation results show that Ride Sharing brings a sort of rebound effect, since there is an increase in passengers traveling by car. However, the overall effect is a reduction in the number of vehicles used, with consequent reductions in vehicle kilometers travelled (-3.8%). This translates into 6% energy savings and 6% Carbon Dioxide emissions reduction. Some policy recommendations are provided to develop Ride Sharing in order to increase the effectiveness of this system while restraining side effects

A review of energy efficiency policies for small and medium-sized manufacturing enterprises from around the world

In most countries, small and medium-sized manufacturing (industrial) enterprises (SMEs) represent more than 99% of the number of companies and 60% of employment. Thus, this sector, apart from using energy, is a major driver in the economy with regard to innovations, GDP, investments and export. Despite the importance of SMEs in the economy, they have not received much attention in most countries' energy policy activities. Energy management in its various forms is regarded as one of the key drivers of industrial energy efficiency. While the term "energy management" is often associated with the ISO 50001 standard, there is a broad variety of different programs and schemes in place that do not strictly abide by the framework of the standard. Especially for SMEs, the standardized protocols of ISO 50001 are often too complex for cost-efficient implementation. The aim of this paper is to provide an international overview of existing energy efficiency policies with a focus on energy management practices in selected EU member states as well as Norway and Japan. Results indicate that different countries apply a broad variety of policy contexts in which the energy management practices are embedded.Funding: Högskolan i Gävle m.fl.</p