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Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States.

Publication ,  Journal Article
Hauser, MA; Sena, DF; Flor, J; Walter, J; Auguste, J; Larocque-Abramson, K; Graham, F; Delbono, E; Haines, JL; Pericak-Vance, MA; Wiggs, JL ...
Published in: J Glaucoma
October 2006

PURPOSE: Previous studies have suggested that Optineurin (OPTN) sequence variants contribute to low-tension glaucoma (LTG) in ethnically homogeneous populations. The purpose of this study is to evaluate the prevalence of OPTN sequence variants in an ethnically diverse population of LTG patients from the United States, and to describe the phenotype of patients with OPTN sequence variants preferentially found in LTG patients. METHODS: Genomic DNA purified from 67 LTG patients was screened for DNA sequence variants located in the exons and flanking introns of the OPTN gene using high-performance liquid chromatography analysis and direct genomic DNA sequencing. Eighty-six primary open-angle glaucoma probands and 100 control patients were also analyzed. RESULTS: Nine OPTN DNA sequence variants were identified in this patient population including the 2 previously identified heterozygous nonsynonymous single-nucleotide polymorphisms in exons 4 and 5. Four LTG patients with severe disease and positive family history of glaucoma, were found to have DNA sequence changes not found in primary open-angle glaucoma probands or control individuals including the previously reported E50K variation. CONCLUSIONS: The results of this study support the rare association of OPTN sequence variants with familial forms of LTG. The E50K mutation seems to be associated with a severe form of LTG, and although rare, the identification of this sequence variant in patients at risk may help direct appropriate therapy.

Duke Scholars

Published In

J Glaucoma

DOI

ISSN

1057-0829

Publication Date

October 2006

Volume

15

Issue

5

Start / End Page

358 / 363

Location

United States

Related Subject Headings

  • White People
  • United States
  • Transcription Factor TFIIIA
  • Sequence Analysis, DNA
  • Prevalence
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Phenotype
  • Ophthalmology & Optometry
  • Ocular Hypertension
 

Citation

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Hauser, M. A., Sena, D. F., Flor, J., Walter, J., Auguste, J., Larocque-Abramson, K., … Wiggs, J. L. (2006). Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. J Glaucoma, 15(5), 358–363. https://doi.org/10.1097/01.ijg.0000212255.17950.42
Hauser, Michael A., Dayse Figueiredo Sena, Jason Flor, Jeff Walter, Josette Auguste, Karen Larocque-Abramson, Felicia Graham, et al. “Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States.J Glaucoma 15, no. 5 (October 2006): 358–63. https://doi.org/10.1097/01.ijg.0000212255.17950.42.
Hauser MA, Sena DF, Flor J, Walter J, Auguste J, Larocque-Abramson K, et al. Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. J Glaucoma. 2006 Oct;15(5):358–63.
Hauser, Michael A., et al. “Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States.J Glaucoma, vol. 15, no. 5, Oct. 2006, pp. 358–63. Pubmed, doi:10.1097/01.ijg.0000212255.17950.42.
Hauser MA, Sena DF, Flor J, Walter J, Auguste J, Larocque-Abramson K, Graham F, Delbono E, Haines JL, Pericak-Vance MA, Rand Allingham R, Wiggs JL. Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. J Glaucoma. 2006 Oct;15(5):358–363.

Published In

J Glaucoma

DOI

ISSN

1057-0829

Publication Date

October 2006

Volume

15

Issue

5

Start / End Page

358 / 363

Location

United States

Related Subject Headings

  • White People
  • United States
  • Transcription Factor TFIIIA
  • Sequence Analysis, DNA
  • Prevalence
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Phenotype
  • Ophthalmology & Optometry
  • Ocular Hypertension