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Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.

Publication ,  Journal Article
Liu, Y; Allingham, RR; Qin, X; Layfield, D; Dellinger, AE; Gibson, J; Wheeler, J; Ashley-Koch, AE; Stamer, WD; Hauser, MA
Published in: Invest Ophthalmol Vis Sci
September 27, 2013

PURPOSE: To identify the specific genes in human trabecular meshwork (TM) related to POAG. METHODS: Primary open-angle glaucoma TM specimens were obtained from routine trabeculectomy surgery. Nonglaucomatous control TM specimens were dissected from donor eyes using the same approach as a standard trabeculectomy. All cases were screened for myocilin (MYOC) mutations. Total RNA was extracted, labeled, and hybridized to Illumina HumanWG-6 BeadChips. Expression data were normalized and analyzed using the R package limma in Bioconductor. Pathway analyses were performed using DAVID Bioinformatics Resources. RESULTS: Our study included surgical TM specimens from 15 cases and 13 controls. One case was identified with a heterozygous Q368X MYOC mutation. If TMs were available from both eyes in an individual, the expression data were combined for analysis. The following three comparisons were performed for differential analyses: (1) MYOC POAG case versus 14 non-MYOC POAG cases, (2) MYOC POAG case versus 13 controls, and (3) 14 non-MYOC POAG cases versus 13 controls. Limited by one MYOC case in comparisons 1 and 2, expression changes were reported comparing the fold changes but without P values. Comparison 3 identified 483 genes, including 36 components of TM exosomes. Gene ontology analysis identified several enriched functional clusters, including cell adhesion, extracellular matrix, and secretion. CONCLUSIONS: This is the largest TM expression study of POAG cases and controls performed to date and represents the first report of TM expression in a patient having POAG with a Q368X MYOC mutation. Our data suggest the potential role of endocytic and exosome pathways in the pathogenesis of POAG.

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Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

September 27, 2013

Volume

54

Issue

9

Start / End Page

6382 / 6389

Location

United States

Related Subject Headings

  • Transcriptome
  • Trabecular Meshwork
  • RNA
  • Ophthalmology & Optometry
  • Mutation
  • Middle Aged
  • Microarray Analysis
  • Male
  • Humans
  • Glycoproteins
 

Citation

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Liu, Y., Allingham, R. R., Qin, X., Layfield, D., Dellinger, A. E., Gibson, J., … Hauser, M. A. (2013). Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci, 54(9), 6382–6389. https://doi.org/10.1167/iovs.13-12128
Liu, Yutao, R Rand Allingham, Xuejun Qin, David Layfield, Andrew E. Dellinger, Jason Gibson, Joshua Wheeler, Allison E. Ashley-Koch, W Daniel Stamer, and Michael A. Hauser. “Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.Invest Ophthalmol Vis Sci 54, no. 9 (September 27, 2013): 6382–89. https://doi.org/10.1167/iovs.13-12128.
Liu Y, Allingham RR, Qin X, Layfield D, Dellinger AE, Gibson J, et al. Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2013 Sep 27;54(9):6382–9.
Liu, Yutao, et al. “Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.Invest Ophthalmol Vis Sci, vol. 54, no. 9, Sept. 2013, pp. 6382–89. Pubmed, doi:10.1167/iovs.13-12128.
Liu Y, Allingham RR, Qin X, Layfield D, Dellinger AE, Gibson J, Wheeler J, Ashley-Koch AE, Stamer WD, Hauser MA. Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2013 Sep 27;54(9):6382–6389.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

September 27, 2013

Volume

54

Issue

9

Start / End Page

6382 / 6389

Location

United States

Related Subject Headings

  • Transcriptome
  • Trabecular Meshwork
  • RNA
  • Ophthalmology & Optometry
  • Mutation
  • Middle Aged
  • Microarray Analysis
  • Male
  • Humans
  • Glycoproteins