Human Genetics

, Volume 110, Issue 5, pp 513–514 | Cite as

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma

  • Tin Aung
  • Louise Ocaka
  • Neil D. Ebenezer
  • Alex G. Morris
  • Glen Brice
  • Anne H. Child
  • Roger A. Hitchings
  • Ordan J. Lehmann
  • Shomi S. Bhattacharya
Short Report

Abstract.

OPA1, the gene responsible for autosomal dominant optic atrophy, represents a good candidate gene for glaucoma, as there are similarities in the clinical phenotype and OPA1 is expressed in the optic nerve. Single nucleotide polymorphisms on intervening sequence (IVS) 8 of the OPA1gene (genotype IVS8+4 C/T;+32T/C) were recently found to be strongly associated with normal tension glaucoma (NTG). In order to investigate whether this association exists in patients with high-tension glaucoma (HTG), 90 well-characterized HTG patients were examined for the presence of these OPA1 polymorphisms by PCR amplification followed by bi-directional sequencing. Five out of 90 HTG subjects (5.6%; 95% CI 1.8–12.5) were found to carry the OPA1 genotype IVS 8+4 C/T; +32 T/C, compared with 32/163 (19.6%; 95% CI 13.8–26.6) NTG subjects [χ2=9.2, P=0.002, OR 4.1 (95% CI 1.6–11.1)], and 7/186 (3.8%; 95% CI 1.5–7.6) control subjects [χ2=0.47, P=0.49, OR 1.5 (95% CI 0.5–4.9)]. These results indicate that unlike NTG, the OPA1 genotype IVS8+4 C/T,+32T/C is not significantly associated with high-tension primary open angle glaucoma, and suggest genetic heterogeneity between the conditions.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Tin Aung
    • 1
  • Louise Ocaka
    • 1
  • Neil D. Ebenezer
    • 1
  • Alex G. Morris
    • 1
  • Glen Brice
    • 2
  • Anne H. Child
    • 2
  • Roger A. Hitchings
    • 2
  • Ordan J. Lehmann
    • 1
  • Shomi S. Bhattacharya
    • 1
  1. 1.Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UKUK
  2. 2.Moorfields Eye Hospital, London, UKUK
  3. 3.Singapore National Eye Centre, SingaporeSingapore
  4. 4.St George's Hospital Med School, London, UKUK

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