June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
COCH Variants are not Associated with Primary-open Angle Glaucoma or Intraocular Pressure in Caucasians
Author Affiliations & Notes
  • Danyi Wang
    Ophthalmology, Harvard Med Sch, Massachusetts Eye & Ear Infirmary, Boston, MA
  • Baojian Fan
    Ophthalmology, Harvard Med Sch, Massachusetts Eye & Ear Infirmary, Boston, MA
  • Yutao Liu
    Ophthalmology & Medicine, Duke University Medical Center, Durham, NC
  • Michael Hauser
    Ophthalmology & Medicine, Duke University Medical Center, Durham, NC
  • R Rand Allingham
    Ophthalmology, Duke University Medical Center, Durham, NC
  • Jonathan Haines
    Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, TN
  • Janey Wiggs
    Ophthalmology, Harvard Med Sch, Massachusetts Eye & Ear Infirmary, Boston, MA
  • Footnotes
    Commercial Relationships Danyi Wang, None; Baojian Fan, None; Yutao Liu, None; Michael Hauser, None; R Rand Allingham, New World Medical (C); Jonathan Haines, Arctic Dx (I), AMD genes (P); Janey Wiggs, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 6208. doi:https://doi.org/
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    • Get Citation

      Danyi Wang, Baojian Fan, Yutao Liu, Michael Hauser, R Rand Allingham, Jonathan Haines, Janey Wiggs; COCH Variants are not Associated with Primary-open Angle Glaucoma or Intraocular Pressure in Caucasians. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6208. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: COCH produces Cochlin, an extracellular matrix protein that has been identified in glaucomatous TM tissue in both humans and mice. Recently, a transgene carrying a copy of the human COCH gene was shown to cause an increase in IOP in monkey organ cultured anterior segments, suggesting that increased expression of COCH in TM could lead to an increase in IOP. The human COCH gene is located on chromosome 14q12, a genomic region that has been implicated in POAG by genetic linkage studies. The purpose of this study is to assess the association between single nucleotide polymorphisms (SNPs) in the COCH gene region on chromosome 14q12 in relation to primary open angle glaucoma (POAG).

Methods: 539 POAG cases and 336 controls from the Massachusetts Eye and Ear Infirmary (MEEI) were initially genotyped for 16 tag SNPs capturing 100% of COCH alleles with mean r-square of 0.95. Three SNPs of interest in the proximal gene region were genotyped in a second independent group of 518 POAG cases and 445 controls from Duke University Medical Center. Association analysis was performed for POAG overall as well as subgroup analysis after stratifying by IOP.

Results: A significant association was not found between any of the COCH gene SNPs and POAG overall. In subgroup analysis after stratifying by highest IOP, suggestive association between rs8015095 and IOP was found in both the MEEI [p= 0.038, OR 1.55 (1.03-2.33)] and Duke cohorts[(p=0.014, OR 2.01 (1.19-3.41)], and in a meta-analysis (p=0.0011, OR 1.71), however a linear regression analysis did not find an association between the risk allele and IOP level.

Conclusions: Based on function and expression, COCH is an excellent candidate gene for glaucoma. Our study however, did not reveal statistically significant associations between POAG overall or IOP with SNPs in the gene region in this population. It is possible that rare variants in COCH gene may contribute to POAG and IOP level.

Keywords: 539 genetics • 739 transcription factors  
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