Publications by authors named "Adriana Iglesias"
(1) Background: The impact of SARS-CoV-2 has been variable over the time course of the pandemic and in different populations. The aim was to analyze the impact of COVID-19 infection in a known population of hemodialysis (HD) patients and professionals in Spain at different times of the pandemic. (2) Methods: We conducted an observational, descriptive study with a follow-up from 3 March 2020 to 23 April 2022 (776 days), using in average of 414 professionals and 1381 patients from 18 HD units in Spain.
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- Myopia (nearsightedness) is a common eye condition caused by a mismatch between how the eye focuses light and its length.
- This study looked at how different types of light (like UVA, violet, cyan, green/yellow, red, and white) affect the eye growth of zebrafish.
- Findings suggest that exposure to cyan or red light reduces eye length, indicating that light conditions could be a potential strategy to control myopia.
Article Synopsis
- Genome-wide association studies (GWAS) have identified genetic factors related to refractive errors like myopia, but the functional roles of these genes are not well-explored.
- Researchers focused on nine candidate genes and used CRISPR/Cas9 to create knock-out zebrafish to study changes in axial length and refractive status.
- They found that three genes (LAMA2, LRRC4C, KCNQ5) were linked to myopia development, as their knock-out led to increased axial length and myopic shift, highlighting their potential role in the condition.
Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing.
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- The study aims to create assays for testing genes related to ocular diseases in zebrafish, particularly focusing on refractive error.
- The researchers developed a comprehensive pipeline to measure key ocular factors like biometry, refractive status, intraocular pressure, and visual response, and validated it using zebrafish mutants of two specific genes (PRSS56 and FBN1).
- Results demonstrated significant ocular changes in the zebrafish mutants, supporting the pipeline's effectiveness and the use of zebrafish as a model for studying human ocular diseases.
The Role of GJD2(Cx36) in Refractive Error Development.
Invest Ophthalmol Vis Sci
March 2022
Article Synopsis
- * The rise in myopia cases has sparked health concerns due to potential serious eye complications in the future, prompting research into genetic factors through genomewide association studies (GWAS).
- * The gap junction delta-2 (GJD2) gene, which encodes the connexin 36 protein important for retinal signal processing, has been heavily linked to myopia development, with studies exploring its mechanisms involving dopamine and gap junction interactions.
Article Synopsis
- Myopia, a common eye disorder in children, is linked to the GJD2 genetic locus, but its specific role in eye development is not well understood.
- Research in zebrafish shows that removing certain GJD2 gene orthologs (gjd2a and gjd2b) affects eye shape and vision.
- Specifically, depletion of gjd2a causes hyperopia and changes in retinal function, while gjd2b loss leads to cataracts and eye elongation, highlighting their critical roles in eye health.
Article Synopsis
- Primary open-angle glaucoma (POAG) is a heritable eye condition leading to blindness and the study involved a large genetic analysis of over 34,000 patients and nearly 350,000 controls from different ethnic backgrounds.
- Researchers identified 44 new genetic risk factors for POAG and confirmed 83 previously known ones, finding consistent impacts across various ancestries.
- The study also suggests that certain genes could play significant roles in the disease's development, indicating potential new drug treatments targeting these genetic risk factors.
Article Synopsis
- - The study focuses on using genome-wide association studies to analyze related traits for primary open-angle glaucoma (POAG), particularly looking at optic nerve head (ONH) parameters like cup area and disc area.
- - It identifies new genetic variants linked to ONH traits that have significant implications for POAG, and these variants have been confirmed in independent Asian cohorts.
- - However, the validation of these findings is complicated due to the diversity within POAG groups, suggesting that multi-trait analysis is an effective method for discovering new genetic factors.
Article Synopsis
- The study aimed to analyze the genetic connections between common myopia and primary open-angle glaucoma (POAG) using two different research groups.
- Researchers tested various polygenic risk scores (PRSs) derived from large genetic studies but found no significant associations between myopia PRS and POAG or its measured traits such as intraocular pressure.
- While no genetic overlap between myopia and POAG was established, a noteworthy connection was found between myopia and the size of the optic disc, affirming the effectiveness of the research methods used.
Purpose: A genetic correlation is the proportion of phenotypic variance between traits that is shared on a genetic basis. Here we explore genetic correlations between diabetes- and glaucoma-related traits.
Design: Cross-sectional study.
Objective: The aim of this study is to demonstrate if routine assessment of patient index data 3 has a correlation with disease's activity as much as disease activity score 28, clinical disease activity index, and simplified disease activity index in Ecuadorian patients with rheumatoid arthritis seen in Unidad de Enfermedades Reumáticas y Autoinmunes [UNERA] from December 2016 to December 2017.
Methods: This is a retrospective study in 200 patients that fulfill the American College of Rheumatology 2010 criteria for diagnosis of rheumatoid arthritis. The patients were evaluated from December 2016 to December 2017.
Myopia is a refractive error of the eye caused by a complex interplay between nature and nurture. The aim of this study was to investigate whether environmental risk factors can influence the genetic effect in children developing myopia. A total of 3422 children participating in the birth-cohort study Generation R underwent an extensive eye examination at 9 years with measurements of refractive error and axial length corneal radius ratio (AL/CR).
View Article and Find Full Text PDFEmmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article.
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- Primary open angle glaucoma (POAG) has a significant genetic component and shows varying prevalence among ethnic groups, being notably more common in black African populations.
- A genome-wide association study involving Tanzanian, South African, and African American samples identified a confirmed association with the TXNRD2 gene and revealed a genetic risk score linked to 15 previously known POAG loci.
- Additionally, a novel genetic locus associated with POAG was identified (EXOC4), but efforts to validate this finding in West African populations faced challenges due to genetic diversity, indicating the need for larger studies to better understand POAG in these groups.
With the objective of performing a clinical characterization of children and adolescents with acute lymphoblastic leukemia and febrile neutropenia in a hospital in Ecuador, a case series study was carried out, which involved reviewing the clinical records of patients receiving care at "Hospital de la Sociedad de Lucha Contra el Cancer" in Guayaquil between January 2014 and April 2016. Out of the 101 patients, 51.5% were female; mean age was 5.
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- Refractive errors, like myopia, are common eye disorders linked to blindness, and a large genetic study expanded the understanding of their genetic basis from 37 to 161 independent signals among over 255,000 participants.
- The study revealed significant genetic similarities between Europeans and Asians while identifying important cellular processes in the retina that contribute to these visual conditions.
- Additionally, the research uncovered new genes related to mechanisms such as synaptic neurotransmission and vascular development, highlighting a light-dependent signaling pathway that could explain how refractive errors develop.
Article Synopsis
- Central corneal thickness (CCT) is a genetic trait linked to eye diseases like keratoconus and glaucoma, and a meta-analysis identified 19 new genetic regions associated with CCT.
- The study highlights known genetic pathways related to connective tissue and discovers new gene sets, with over 20% of the CCT-related genes near those linked to Mendelian disorders.
- A significant negative correlation was found between CCT and keratoconus (suggesting they influence each other), while no similar correlation was observed with primary open-angle glaucoma.
Article Synopsis
- The study examined the genetics behind electrocardiographic measures of left ventricular hypertrophy (LVH) to identify rare genetic variants associated with increased cardiovascular risk.
- Researchers analyzed data from a Dutch family study and linked genetic variations with specific heart measurement traits, finding notable scores on chromosome 15 and identifying variants through exome sequencing.
- A rare variant in the MAPK3K11 gene on chromosome 11 was highlighted as a potential contributor to cardiovascular risk, indicating its role in heart cell death related to LVH conditions.
Article Synopsis
- - The study aimed to find specific microRNAs (miRNAs) that are related to primary open-angle glaucoma (POAG) by analyzing genetic data and how genetic variations impact miRNA function, which may influence disease risk.
- - Researchers utilized data from genome-wide association studies focusing on factors like intraocular pressure and cup-to-disc ratio to link miRNAs with POAG characteristics, testing putative targets through experiments in cell lines.
- - Significant variants were identified, including two that influence the expression of miR-612 and affect the binding of miR-4707 to the CARD10 gene, highlighting potential miRNA-target interactions for future therapeutic research on POAG.
Article Synopsis
- Primary open-angle glaucoma (POAG) is the leading type of chronic optic neuropathy globally, with intraocular pressure (IOP) showing a strong positive correlation to POAG, while the link between blood pressure (BP) and POAG remains debated.
- Large genomic data sets indicated a significant association between high IOP and POAG, with an odds ratio of 1.18, but found no significant connection between BP and POAG.
- Genetic analysis revealed a high correlation between IOP and POAG, while the relationship between IOP and BP, and BP and POAG, showed negligible connections, confirming that BP has limited genetic overlap with either IOP or POAG.
Article Synopsis
- The Haplotype Reference Consortium (HRC) recently launched an imputation panel that enhances the accuracy of genetic variant imputation, particularly for low-frequency variants.
- A study compared genotypes from an exome array with imputed data from both HRC and the 1000 Genomes Project (1000GP) and found HRC imputation significantly improved concordance, especially for rare variants.
- Additionally, a genome-wide association meta-analysis on glaucoma-related traits revealed that HRC imputation resulted in better P values and identified eight significant loci compared to seven from 1000GP, showcasing the potential for new gene discovery.
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk.
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- - The study investigates the MYOC gene mutation (Gln368Stop), which is linked to 2-4% of glaucoma cases by raising intraocular pressure (IOP), using data from large European cohorts (TwinsUK and Rotterdam Study).
- - Researchers assessed the presence of this mutation in participants and measured the penetrance, finding 12.5% in TwinsUK and 19.4% in the Rotterdam Study, indicating lower than expected rates of high IOP associated with the mutation.
- - The findings suggest many more healthy individuals carry this mutation than previously thought, which questions its effectiveness as a screening tool for glaucoma risk.
Raised intraocular pressure (IOP) is the most important risk factor for developing glaucoma, the second commonest cause of blindness globally. Understanding associations with IOP and variations in IOP between countries may teach us about mechanisms underlying glaucoma. We examined cross-sectional associations with IOP in 43,500 European adults from 12 cohort studies belonging to the European Eye Epidemiology (E) consortium.
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