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Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

Publication ,  Journal Article
McDonald, KK; Abramson, K; Beltran, MA; Ramirez, MG; Alvarez, M; Ventura, A; Santiago-Turla, C; Schmidt, S; Hauser, MA; Allingham, RR
Published in: J Hum Genet
October 2010

Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case-control study of unrelated POAG cases and nonglaucomatous controls in a population of Hispanics of Mexican descent. Ascertainment criteria for POAG included the presence of glaucomatous optic neuropathy with associated visual field loss and the absence of secondary causes of glaucoma. Controls had normal optic nerves, visual fields and intraocular pressure. All coding exons of MYOC and OPTN were sequenced. The data set consisted of 88 POAG cases and 93 controls. A novel nonsynonymous coding variant (R7H) in the first exon of MYOC was identified. Other identified variants in MYOC and OPTN have been previously described and do not seem to contribute to POAG risk. This is the first comprehensive study of MYOC and OPTN in Hispanics of Mexican descent with POAG. Neither MYOC nor OPTN sequence variants seem to have a major role in the etiology of POAG in this population.

Duke Scholars

Published In

J Hum Genet

DOI

EISSN

1435-232X

Publication Date

October 2010

Volume

55

Issue

10

Start / End Page

697 / 700

Location

England

Related Subject Headings

  • Transcription Factor TFIIIA
  • Mexico
  • Mexican Americans
  • Membrane Transport Proteins
  • Male
  • Humans
  • Hispanic or Latino
  • Hispanic Americans
  • Glycoproteins
  • Glaucoma, Open-Angle
 

Citation

APA
Chicago
ICMJE
MLA
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McDonald, K. K., Abramson, K., Beltran, M. A., Ramirez, M. G., Alvarez, M., Ventura, A., … Allingham, R. R. (2010). Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG. J Hum Genet, 55(10), 697–700. https://doi.org/10.1038/jhg.2010.91
McDonald, Kristin K., Karen Abramson, Marco A. Beltran, Maria G. Ramirez, Miguel Alvarez, Alice Ventura, Cecilia Santiago-Turla, Silke Schmidt, Michael A. Hauser, and R Rand Allingham. “Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.J Hum Genet 55, no. 10 (October 2010): 697–700. https://doi.org/10.1038/jhg.2010.91.
McDonald KK, Abramson K, Beltran MA, Ramirez MG, Alvarez M, Ventura A, et al. Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG. J Hum Genet. 2010 Oct;55(10):697–700.
McDonald, Kristin K., et al. “Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.J Hum Genet, vol. 55, no. 10, Oct. 2010, pp. 697–700. Pubmed, doi:10.1038/jhg.2010.91.
McDonald KK, Abramson K, Beltran MA, Ramirez MG, Alvarez M, Ventura A, Santiago-Turla C, Schmidt S, Hauser MA, Allingham RR. Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG. J Hum Genet. 2010 Oct;55(10):697–700.
Journal cover image

Published In

J Hum Genet

DOI

EISSN

1435-232X

Publication Date

October 2010

Volume

55

Issue

10

Start / End Page

697 / 700

Location

England

Related Subject Headings

  • Transcription Factor TFIIIA
  • Mexico
  • Mexican Americans
  • Membrane Transport Proteins
  • Male
  • Humans
  • Hispanic or Latino
  • Hispanic Americans
  • Glycoproteins
  • Glaucoma, Open-Angle