The X chromosome’s influences on the human brain DOI Creative Commons
Zhiwen Jiang, Patrick F. Sullivan, Tengfei Li

et al.

Science Advances, Journal Year: 2025, Volume and Issue: 11(4)

Published: Jan. 24, 2025

Genes on the X chromosome are extensively expressed in human brain. However, little is known for chromosome’s impact brain anatomy, microstructure, and functional networks. We examined 1045 complex imaging traits from 38,529 participants UK Biobank. unveiled potential autosome–X interactions while proposing an atlas outlining dosage compensation traits. Through extensive association studies, we identified 72 genome-wide significant trait-locus pairs (including 29 new associations) that share genetic architectures with brain-related disorders, notably schizophrenia. Furthermore, found unique sex-specific associations assessed variations effects between sexes. Our research offers critical insights into role brain, underscoring its contribution to differences observed structure functionality

Language: Английский

Myopia DOI
Paul N. Baird, Seang‐Mei Saw, Carla Lança

et al.

Nature Reviews Disease Primers, Journal Year: 2020, Volume and Issue: 6(1)

Published: Dec. 17, 2020

Language: Английский

Citations

504

IMI Risk Factors for Myopia DOI Creative Commons
Ian G. Morgan, Pei‐Chang Wu, Lisa A. Ostrin

et al.

Investigative Ophthalmology & Visual Science, Journal Year: 2021, Volume and Issue: 62(5), P. 3 - 3

Published: April 28, 2021

Risk factor analysis provides an important basis for developing interventions any condition. In the case of myopia, evidence a large number risk factors has been presented, but they have not systematically tested confounding. To be useful designing preventive interventions, ideally needs to carried through demonstration causal connection, with defined mechanism. Statistical is often complicated by covariation variables, and relationship between myopia using Mendelian randomization or in randomized clinical trial should aimed for. When strict this kind applied, associations various measures educational pressure are consistently observed. However, more nearwork generally weak inconsistent, supported meta-analysis. Associations time outdoors less stronger observed, including Measurement traditionally performed questionnaires, increasingly being pursued wearable objective devices. A link increased years education confirmed randomization, whereas protective effect from development trials. Other proposed need see if modulate these variables. The linking screen although limitations on under consideration as control epidemic myopia.

Language: Английский

Citations

268

IMI Pathologic Myopia DOI Creative Commons
Kyoko Ohno‐Matsui, Pei‐Chang Wu, Kenji Yamashiro

et al.

Investigative Ophthalmology & Visual Science, Journal Year: 2021, Volume and Issue: 62(5), P. 5 - 5

Published: April 28, 2021

Pathologic myopia is a major cause of visual impairment worldwide. distinctly different from high myopia. High degree myopic refractive error, whereas pathologic defined by presence typical complications in the fundus (posterior staphyloma or maculopathy equal to more serious than diffuse choroidal atrophy). often occurs eyes with myopia, however its especially posterior can also occur without Owing recent advance ocular imaging, an objective and accurate diagnosis has become possible. Especially, optical coherence tomography revealed novel lesions like dome-shaped macula traction maculopathy. Wide-field succeeded visualizing entire extent large staphylomas. The effectiveness new therapies for have been shown, such as anti-VEGF macular neovascularization vitreoretinal surgery Myopia, childhood increasing rapidly world. In parallel increase prevalence increasing. However, it remains unclear whether not will itself. addition, remained genes responsible are same those general, genetically other

Language: Английский

Citations

252

Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute DOI Creative Commons
János Németh, Beáta Tapasztó, Wagih Aclimandos

et al.

European Journal of Ophthalmology, Journal Year: 2021, Volume and Issue: 31(3), P. 853 - 883

Published: March 5, 2021

The prevalence of myopia is increasing extensively worldwide. number people with in 2020 predicted to be 2.6 billion globally, which expected rise up 4.9 by 2050, unless preventive actions and interventions are taken. individuals high also substantially pathological become the most common cause irreversible vision impairment blindness worldwide Europe. These estimates indicate importance reducing burden means control prevent onset slow down progression. Due urgency situation, European Society Ophthalmology decided publish this update current information guidance on management myopia. pathogenesis genetics summarized epidemiology, risk factors, treatment options discussed details.

Language: Английский

Citations

131

Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature DOI Creative Commons
Seyedeh M. Zekavat, Vineet K. Raghu, Mark Trinder

et al.

Circulation, Journal Year: 2021, Volume and Issue: 145(2), P. 134 - 150

Published: Nov. 8, 2021

The microvasculature, the smallest blood vessels in body, has key roles maintenance of organ health and tumorigenesis. retinal fundus is a window for human vivo noninvasive assessment microvasculature. Large-scale complementary machine learning-based vasculature with phenome-wide genome-wide analyses may yield new insights into disease.

Language: Английский

Citations

112

The influence of the environment and lifestyle on myopia DOI Creative Commons
Sayantan Biswas,

Antonio El Kareh,

Mariyem Qureshi

et al.

Journal of PHYSIOLOGICAL ANTHROPOLOGY, Journal Year: 2024, Volume and Issue: 43(1)

Published: Jan. 31, 2024

Abstract Background Myopia, commonly known as near-sightedness, has emerged a global epidemic, impacting almost one in three individuals across the world. The increasing prevalence of myopia during early childhood heightened risk developing high and related sight-threatening eye conditions adulthood. This surge rates, occurring within relatively stable genetic framework, underscores profound influence environmental lifestyle factors on this condition. In comprehensive narrative review, we shed light both established potential contributors that affect development progression myopia. Main body Epidemiological interventional research consistently revealed compelling connection between increased outdoor time decreased children. protective effect may primarily be attributed to exposure characteristics natural (i.e., sunlight) release retinal dopamine. Conversely, irrespective time, excessive engagement near work can further worsen onset While exact mechanisms behind exacerbation are not fully comprehended, it appears involve shifts relative peripheral refraction, overstimulation accommodation, or complex interplay these factors, leading issues like image defocus, blur, chromatic aberration. Other spatial frequency visual environment, circadian rhythm, sleep, nutrition, smoking, socio-economic status, education have debatable independent influences development. Conclusion environment exerts significant Improving modifiable key predictors spent outdoors prevent slow intricate connections often obscure findings, making challenging disentangle their individual effects. complexity necessity for prospective studies employ objective assessments, such quantifying work, among others. These crucial gaining more understanding how various modified

Language: Английский

Citations

57

A comparison of myopia control in European children and adolescents with defocus incorporated multiple segments (DIMS) spectacles, atropine, and combined DIMS/atropine DOI Creative Commons
Paolo Nucci, Andrea Lembo, Irene Schiavetti

et al.

PLoS ONE, Journal Year: 2023, Volume and Issue: 18(2), P. e0281816 - e0281816

Published: Feb. 16, 2023

Purpose To evaluate the efficacy of a myopia control spectacle lens (DIMS) at slowing progression in population European children comparison with 0.01% atropine and combined DIMS atropine. Methods The study was non-randomised experimenter-masked prospective controlled observational individuals aged 6–18 years progressing but no ocular pathology. Participants were allocated, according to patient/parent choice, receive eyedrops, (Hoya ® MiyoSmart ) spectacles, atropine+DIMS or single vision lenses (control group). key outcome variables, cycloplegic autorefraction spherical equivalent refraction (SER) axial length (AL), measured baseline after three, six, 12 months. Results Of 146 participants (mean age 10.3y ±3.2), 53 received atropine, 30 31 atropine+DIMS, 32 spectacles. Generalized linear mixed model analysis revealed for SER, whilst controlling SER baseline, each stage all treatment groups had significantly reduced compared group (p<0.016). For AL, 6 months less than (p<0.005). only, pairwise comparisons only Atropine (p<0.001). Conclusion In population, are effective reducing elongation most successful when used combination.

Language: Английский

Citations

47

Augmentation of scleral glycolysis promotes myopia through histone lactylation DOI
Xiaolei Lin, Yi Lei,

Miaozhen Pan

et al.

Cell Metabolism, Journal Year: 2024, Volume and Issue: 36(3), P. 511 - 525.e7

Published: Jan. 16, 2024

Language: Английский

Citations

24

Eye-brain connections revealed by multimodal retinal and brain imaging genetics DOI Creative Commons
Bingxin Zhao,

Yujue Li,

Zirui Fan

et al.

Nature Communications, Journal Year: 2024, Volume and Issue: 15(1)

Published: July 18, 2024

Abstract The retina, an anatomical extension of the brain, forms physiological connections with visual cortex brain. Although retinal structures offer a unique opportunity to assess brain disorders, their relationship structure and function is not well understood. In this study, we conducted systematic cross-organ genetic architecture analysis eye-brain using imaging endophenotypes. We identified novel phenotypic links between biomarkers measures from multimodal magnetic resonance (MRI), many associations involving primary pathways. Retinal shared influences diseases complex traits in 65 genomic regions, 18 showing overlap MRI traits. Mendelian randomization suggests bidirectional causal neurological neuropsychiatric such as Alzheimer’s disease. Overall, our findings reveal basis for connections, suggesting that images can help uncover risk factors disorders disease-related changes intracranial function.

Language: Английский

Citations

17

Mechanisms of emmetropization and what might go wrong in myopia DOI Creative Commons
Frank Schaeffel, Barbara Świątczak

Vision Research, Journal Year: 2024, Volume and Issue: 220, P. 108402 - 108402

Published: May 4, 2024

Studies in animal models and humans have shown that refractive state is optimized during postnatal development by a closed-loop negative feedback system uses retinal image defocus as an error signal, mechanism called emmetropization. The sensor to detect its sign resides the retina itself. and/or pigment epithelium (RPE) presumably releases biochemical messengers change choroidal thickness modulate growth rates of underlying sclera. A central question arises: if emmetropization operates system, why does it not stop myopia development? Recent experiments young human subjects (1) emmetropic can perfectly distinguish between real positive simulated defocus, trigger transient axial eye shortening or elongation, respectively. (2) Strikingly, myopic has reduced ability inhibit when imposed. (3) bi-directional response elicited with low spatial frequency information below 8 cyc/deg, which makes unlikely optical higher-order aberrations play role. (4) for detection involves comparison blur blue (S-cone) red end spectrum (L + M-cones) but, again, responsive, at least short-term experiments. This suggests cannot fully inhibitory arm loop. As result, open loop, becomes "open-loop".

Language: Английский

Citations

16