Cargando…

EyeDiseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases

Eye diseases are remarkably common and encompass a large and diverse range of morbidities that affect different components of the visual system and visual function. With advances in omics technology of eye disorders, genome-scale datasets have been rapidly accumulated in genetics and epigenetics fie...

Descripción completa

Detalles Bibliográficos
Autores principales: Yuan, Jian, Chen, Fukun, Fan, Dandan, Jiang, Qi, Xue, Zhengbo, Zhang, Ji, Yu, Xiangyi, Li, Kai, Qu, Jia, Su, Jianzhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8168129/
https://www.ncbi.nlm.nih.gov/pubmed/34085038
http://dx.doi.org/10.1093/nargab/lqab050
_version_ 1783701826771615744
author Yuan, Jian
Chen, Fukun
Fan, Dandan
Jiang, Qi
Xue, Zhengbo
Zhang, Ji
Yu, Xiangyi
Li, Kai
Qu, Jia
Su, Jianzhong
author_facet Yuan, Jian
Chen, Fukun
Fan, Dandan
Jiang, Qi
Xue, Zhengbo
Zhang, Ji
Yu, Xiangyi
Li, Kai
Qu, Jia
Su, Jianzhong
author_sort Yuan, Jian
collection PubMed
description Eye diseases are remarkably common and encompass a large and diverse range of morbidities that affect different components of the visual system and visual function. With advances in omics technology of eye disorders, genome-scale datasets have been rapidly accumulated in genetics and epigenetics field. However, the efficient collection and comprehensive analysis of different kinds of omics data are lacking. Herein, we developed EyeDiseases (https://eyediseases.bio-data.cn/), the first database for multi-omics data integration and interpretation of human eyes diseases. It contains 1344 disease-associated genes with genetic variation, 1774 transcription files of bulk cell expression and single-cell RNA-seq, 105 epigenomics data across 185 kinds of human eye diseases. Using EyeDiseases, we investigated SARS-CoV-2 potential tropism in eye infection and found that the SARS-CoV-2 entry factors, ACE2 and TMPRSS2 are highly correlated with cornea and keratoconus, suggest that ocular surface cells are susceptible to infection by SARS-CoV-2. Additionally, integrating analysis of Age-related macular degeneration (AMD) GWAS loci and co-expression data revealed 9 associated genes involved in HIF-1 signaling pathway and voltage-gate potassium channel complex. The EyeDiseases provides a valuable resource for accelerating the discovery and validation of candidate loci and genes contributed to the molecular diagnosis and therapeutic vulnerabilities with various eyes diseases.
format Online
Article
Text
id pubmed-8168129
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-81681292021-06-02 EyeDiseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases Yuan, Jian Chen, Fukun Fan, Dandan Jiang, Qi Xue, Zhengbo Zhang, Ji Yu, Xiangyi Li, Kai Qu, Jia Su, Jianzhong NAR Genom Bioinform Standard Article Eye diseases are remarkably common and encompass a large and diverse range of morbidities that affect different components of the visual system and visual function. With advances in omics technology of eye disorders, genome-scale datasets have been rapidly accumulated in genetics and epigenetics field. However, the efficient collection and comprehensive analysis of different kinds of omics data are lacking. Herein, we developed EyeDiseases (https://eyediseases.bio-data.cn/), the first database for multi-omics data integration and interpretation of human eyes diseases. It contains 1344 disease-associated genes with genetic variation, 1774 transcription files of bulk cell expression and single-cell RNA-seq, 105 epigenomics data across 185 kinds of human eye diseases. Using EyeDiseases, we investigated SARS-CoV-2 potential tropism in eye infection and found that the SARS-CoV-2 entry factors, ACE2 and TMPRSS2 are highly correlated with cornea and keratoconus, suggest that ocular surface cells are susceptible to infection by SARS-CoV-2. Additionally, integrating analysis of Age-related macular degeneration (AMD) GWAS loci and co-expression data revealed 9 associated genes involved in HIF-1 signaling pathway and voltage-gate potassium channel complex. The EyeDiseases provides a valuable resource for accelerating the discovery and validation of candidate loci and genes contributed to the molecular diagnosis and therapeutic vulnerabilities with various eyes diseases. Oxford University Press 2021-06-01 /pmc/articles/PMC8168129/ /pubmed/34085038 http://dx.doi.org/10.1093/nargab/lqab050 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of NAR Genomics and Bioinformatics. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Standard Article
Yuan, Jian
Chen, Fukun
Fan, Dandan
Jiang, Qi
Xue, Zhengbo
Zhang, Ji
Yu, Xiangyi
Li, Kai
Qu, Jia
Su, Jianzhong
EyeDiseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases
title EyeDiseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases
title_full EyeDiseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases
title_fullStr EyeDiseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases
title_full_unstemmed EyeDiseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases
title_short EyeDiseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases
title_sort eyediseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases
topic Standard Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8168129/
https://www.ncbi.nlm.nih.gov/pubmed/34085038
http://dx.doi.org/10.1093/nargab/lqab050
work_keys_str_mv AT yuanjian eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases
AT chenfukun eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases
AT fandandan eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases
AT jiangqi eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases
AT xuezhengbo eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases
AT zhangji eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases
AT yuxiangyi eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases
AT likai eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases
AT qujia eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases
AT sujianzhong eyediseasesanintegratedresourcefordedicatingtogeneticvariantsgeneexpressionandepigeneticfactorsofhumaneyediseases