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| Open AccessIntegrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma
The molecular and cellular causes of glaucoma are not well understood. Here, the authors integrate GWAS with genetic regulation and single cell expression from multiple eye tissues to identify genes and key cell types that affect glaucoma pathogenesis.
- Andrew R. Hamel
- , Wenjun Yan
- & Ayellet V. Segrè
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Article
| Open AccessImproving model fairness in image-based computer-aided diagnosis
Deep learning models can reflect and amplify human bias, potentially resulting inaccurate missed diagnoses. Here, the authors show that by leveraging the marginal pairwise equal opportunity, their model reduces bias in medical image classification by over 35% compared to baseline models, with minimal impact on AUC values.
- Mingquan Lin
- , Tianhao Li
- & Yifan Peng
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Article
| Open AccessPlasma metabolite profile for primary open-angle glaucoma in three US cohorts and the UK Biobank
Primary open-angle glaucoma is a leading cause of blindness. Here, the authors report higher plasma levels of diglycerides and triglycerides in samples collected prior to diagnosis, particularly in cases presenting with vision loss near fixation.
- Oana A. Zeleznik
- , Jae H. Kang
- & Louis R. Pasquale
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Article
| Open AccessMaprotiline restores ER homeostasis and rescues neurodegeneration via Histamine Receptor H1 inhibition in retinal ganglion cells
ER stress is associated with various neurodegenerative diseases. This study found that FDA approved drug, maprotiline, inhibits histamine receptor H1-mediated ER stress and provides significant neuroprotection in mouse glaucoma model.
- Wei Chen
- , Pingting Liu
- & Yang Hu
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Article
| Open AccessGenome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.
- Puya Gharahkhani
- , Eric Jorgenson
- & Janey L. Wiggs
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Article
| Open AccessPseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
LOXL1 is a genetic risk factor for pseudoexfoliation syndrome of the eye but a causal variant has not been identified. Here, Pasutto et al., find intronic LOXL1 risk variants influence transcription factor binding and alternative splicing of LOXL1 in affected tissues reducing levels of LOXL1mRNA.
- Francesca Pasutto
- , Matthias Zenkel
- & Ursula Schlötzer-Schrehardt