June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Association of single nucleotide polymorphisms (SNPs) downstream of Transmembrane and Coiled-Coil Domains 1 (TMCO1) with primary open angle glaucoma (POAG) in African-Americans (AA)
Author Affiliations & Notes
  • Lana Verkuil
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Ian Danford
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Maxwell Pistilli
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • David Collins
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Venkata H Gudiseva
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Benjamin Trachtman
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Jie He
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Meera Ramakrishnan
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Venkata R M Chavali
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Joan M O'Brien
    Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Footnotes
    Commercial Relationships   Lana Verkuil, None; Ian Danford, None; Maxwell Pistilli, None; David Collins, None; Venkata Gudiseva, None; Benjamin Trachtman, None; Jie He, None; Meera Ramakrishnan, None; Venkata Chavali, None; Joan O'Brien, None
  • Footnotes
    Support  This work was supported by the National Eye Institute, Bethesda, Maryland (grant #1RO1EY023557-01) and the Department of Ophthalmology at the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Funds also come from the F.M. Kirby Foundation, Research to Prevent Blindness, The Paul and Evanina Bell Mackall Foundation Trust, and the National Eye Institute, National Institutes of Health, Department of Health and Human Services, under eyeGENETM and contract Nos. HHSN260220700001C and HHSN263201200001C. The sponsor or funding organization had no role in the design or conduct of this research.
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 2119. doi:
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      Lana Verkuil, Ian Danford, Maxwell Pistilli, David Collins, Venkata H Gudiseva, Benjamin Trachtman, Jie He, Meera Ramakrishnan, Venkata R M Chavali, Joan M O'Brien; Association of single nucleotide polymorphisms (SNPs) downstream of Transmembrane and Coiled-Coil Domains 1 (TMCO1) with primary open angle glaucoma (POAG) in African-Americans (AA). Invest. Ophthalmol. Vis. Sci. 2017;58(8):2119.

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

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Abstract

Purpose : Previously, a genome wide association study (GWAS) has identified the SNP rs4656461, downstream of TMCO1, to be associated with POAG in Caucasians. We tested the hypothesis that this genomic region is associated with increased POAG susceptibility and traits in an AA cohort.

Methods : AA subjects recruited for the POAAGG study from the Scheie Eye Institute and its satellite sites in Philadelphia were included. Eight SNPs including and surrounding rs4656461 were sequenced from both POAAGG cases (n=1537) and controls (n=1570). Genomic DNAs were extracted from either saliva or blood samples and were used as templates for PCR, and then Sanger sequenced. Logistic regression analyses between each SNP and POAG disease status were performed while adjusting for age and sex. Associations between each SNP and POAG phenotypic parameters, including central corneal thickness, cup to disc ratio, intraocular pressure, and retinal nerve fiber layer thickness, were assessed by ANOVA.

Results : The SNP rs4657473 (C>T) was associated with POAG disease status; homozygous T genotype was protective against glaucoma (OR 0.20, 95% CI 0.09-0.42; p<0.001). No associations were found between TMCO1 variants and phenotypic traits.

Conclusions : Our results demonstrate that a TMCO1 genomic region that has been associated with POAG in Caucasians is also associated with POAG in an AA population. However, the individual SNP associated in our AA population has not previously been implicated in glaucoma. We were unable to find any correlations between TMCO1 genotype and quantitative POAG traits.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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