6 research outputs found
Measuring Productivity: Issues Arising From Outsourcing And Merger Activities
The paper discusses productivity measurement issues as companies engage in outsourcing and merger activities, and links productivity measures to competitiveness. Need for new productivity approaches is presented
Gabapentin to reduce pain in women aged between 18 and 50 years with chronic pelvic pain: the GaPP2 RCT
IMI - Myopia Genetics Report
The knowledge on the genetic background of refractive error and myopia has expanded
dramatically in the past few years. This white paper aims to provide a concise summary of
current genetic findings and defines the direction where development is needed.
We performed an extensive literature search and conducted informal discussions with key
stakeholders. Specific topics reviewed included common refractive error, any and high
myopia, and myopia related to syndromes.
To date, almost 200 genetic loci have been identified for refractive error and myopia, and risk
variants mostly carry low risk but are highly prevalent in the general population. Several
genes for secondary syndromic myopia overlap with those for common myopia. Polygenic
risk scores show overrepresentation of high myopia in the higher deciles of risk. Annotated
genes have a wide variety of functions, and all retinal layers appear to be sites of expression.
The current genetic findings offer a world of new molecules involved in myopiagenesis. As
the missing heritability is still large, further genetic advances are needed. This Committee
recommends expanding large-scale, in-depth genetic studies using complementary big data
analytics, consideration of gene-environment effects by thorough measurement of environmental exposures, and focus on subgroups with extreme phenotypes and high familial
occurrence. Functional characterization of associated variants is simultaneously needed to
bridge the knowledge gap between sequence variance and consequence for eye growth
Recommended from our members
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers