title: Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.
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 OPA1polymorphisms 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 [chi(2)=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 [chi(2)=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.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK. aung_tin@yahoo.co.uk
authors.forename: Tin
authors.initials: T
authors.lastname: Aung
authors.forename: Louise
authors.initials: L
authors.lastname: Ocaka
authors.forename: Neil D
authors.initials: ND
authors.lastname: Ebenezer
authors.forename: Alex G
authors.initials: AG
authors.lastname: Morris
authors.forename: Glen
authors.initials: G
authors.lastname: Brice
authors.forename: Anne H
authors.initials: AH
authors.lastname: Child
authors.forename: Roger A
authors.initials: RA
authors.lastname: Hitchings
authors.forename: Ordan J
authors.initials: OJ
authors.lastname: Lehmann
authors.forename: Shomi S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D020558:GTP Phosphohydrolases / Q000235:genetics*; D005901:Glaucoma / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D007429:Intraocular Pressure / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human