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Transcriptome analysis of the human corneal endothelium.

ABSTRACT: To comprehensively characterize human corneal endothelial cell (HCEnC) gene expression and age-dependent differential gene expression and to identify expressed genes mapped to chromosomal loci associated with the corneal endothelial dystrophies posterior polymorphous corneal dystrophy (PPCD)1, Fuchs endothelial corneal dystrophy (FECD)4, and X-linked endothelial dystrophy (XECD).Total RNA was isolated from ex vivo corneal endothelium obtained from six pediatric and five adult donor corneas. Complementary DNA was hybridized to the Affymetrix GeneChip 1.1ST array. Data analysis was performed using Partek Genomics Suite software, and differentially expressed genes were validated by digital molecular barcoding technology.Transcripts corresponding to 12,596 genes were identified in HCEnC. Nine genes displayed the most significant differential expression between pediatric and adult HCEnC: CAPN6, HIST1H3A, HIST1H4E, and HSPA2 were expressed at higher levels in pediatric HCEnC, while ITGBL1, NALCN, PREX2, TAC1, and TMOD1 were expressed at higher levels in adult HCEnC. Analysis of the PPCD1, FECD4 and XECD loci demonstrated transcription of 53/95 protein-coding genes in the PPCD1 locus, 27/40 in the FECD4 locus, and 35/68 in the XECD locus.An analysis of the HCEnC transcriptome reveals the expression of almost 13,000 genes, with less than 1% mapped to chromosomal loci associated with PPCD1, FECD4, and XECD. At least nine genes demonstrated significant differential expression between pediatric and adult HCEnC, defining specific functional properties distinct to each age group. These data will serve as a resource for vision scientists investigating HCEnC gene expression and can be used to focus the search for the genetic basis of the corneal endothelial dystrophies for which the genetic basis remains unknown.

SUBMITTER: Frausto RF

PROVIDER: S-EPMC4258927 | biostudies-other | 2014 Nov

REPOSITORIES: biostudies-other

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Transcriptome analysis of the human corneal endothelium.

Frausto Ricardo F RF Wang Cynthia C Aldave Anthony J AJ

Investigative ophthalmology & visual science 20141106 12

<h4>Purpose</h4>To comprehensively characterize human corneal endothelial cell (HCEnC) gene expression and age-dependent differential gene expression and to identify expressed genes mapped to chromosomal loci associated with the corneal endothelial dystrophies posterior polymorphous corneal dystrophy (PPCD)1, Fuchs endothelial corneal dystrophy (FECD)4, and X-linked endothelial dystrophy (XECD).<h4>Methods</h4>Total RNA was isolated from ex vivo corneal endothelium obtained from six pediatric an ...[more]

PMID: 25377225

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Project description:BackgroundThis research was conducted with the aim to determine the effect of diabetes mellitus on corneal endothelial cells.MethodsThe terms: ("diabetes mellitus" or "diabetes" or "diabetic") and ("corneal endothelium" or "cornea" or "Corneas") searched in Pubmed, Embase, Cochrane, and Web of science until August 2019. The included types of studies contained observational studies. The standard mean difference (SMD) which was deemed as main size effects for continuous data was calculated by means and standard deviations. The data on corneal endothelial cell density (ECD), mean cell area (MCA), cell area variation coefficient (CV) and percentage of hexagonal cells (HEX) included in the study were collected and analyzed using stata15.1.ResultsThe final 16 cross-sectional studies and 2 case-control studies were included for the meta-analysis. Meta-analysis revealed that diabetes mellitus could reduce ECD (SMD?=?-?0.352, 95% CI -0.538, -?0.166) and the HEX (SMD?=?-?0.145, 95% CI -0.217, -?0.074), in addition to increasing CV (SMD?=?0.195, 95% CI 0.123, 0.268). Nevertheless, there was no statistically significant differences observed when combining MCA (SMD?=?0.078, 95% CI -0.022, 0.178). In subgroup analysis, Type 2 diabetes patients owned less corneal ECD (P?<?0.05). Moreover the same results also found during the subgroup form Asia, Europe and American. The meta-regression revealed the type of diabetes mellitus might be contributing to heterogeneity. (P?=?0.008). The results indicated a significant publication bias for studies, with combined CV (Begg's test, P?=?0.006; Egger's test, P?=?0.005) and merged combined HEX (Begg's test, P?=?0.113; Egger's test, P?=?0.024).ConclusionsAs indicated by meta-analysis, diabetes mellitus could cause a detrimental effect on corneal endothelium health. Diabetes mellitus contributed to the instability of corneal endothelium during the analysis. Therefore, further research is considered necessary to confirm our research results.Trial registrationCED 42019145858 .

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Transcriptome analysis of the human corneal endothelium.

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Transcriptome analysis of the human corneal endothelium.

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