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Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology.
In: Archives of Ophthalmology, ISSN 0003-9950Article in journal (Refereed) Submitted
URN: urn:nbn:se:uu:diva-91539OAI: oai:DiVA.org:uu-91539DiVA: diva2:164308
Available from: 2004-04-14 Created: 2004-04-14Bibliographically approved
In thesis
1. Molecular Genetic Studies of Genes Predisposing for Glaucoma
Open this publication in new window or tab >>Molecular Genetic Studies of Genes Predisposing for Glaucoma
2004 (English)Doctoral thesis, comprehensive summary (Other academic)
Alternative title[sv]
Molekylärgenetiska studier av gener som predisponerar för glaukom
Abstract [en]

Glaucoma is one of the leading causes of visual impairment in the world. In glaucoma, the patient’s peripheral vision is lost due to progressive and irreversible deterioration of the retinal ganglion cells and atrophy of the optic nerve. The effect on the visual field is gradual and painless, and the progression so slow, that the patient may not notice until a substantial part of the visual field is lost. If left untreated, glaucoma can lead to blindness.

In this thesis, genes associated to glaucoma have been analysed in Swedish patients with primary open angle and exfoliative glaucoma. The genes studied were MYOC, oculomedin, GSTM1 and OPTN.

The coding sequence of MYOC was analysed and mutations were found in 1% of the primary open angle glaucoma patients. Additionally, a predisposing variant was found in 1% of the patients as well as in 0.5% of the controls. No disease-associated variation was found in the exfoliative glaucoma cases. Mutations were also found in two families affected by glaucoma. The coding sequence of oculomedin was analysed, but none of the variants found were classified as disease causing in either patient group. GSTM1 was analysed for its presence in the patients. No association could be found for either hetero- or homozygous deletions. The coding sequence and haplotype distribution of OPTN was analysed. None of the variants found were classified as disease causing and none of the haplotypes were associated to the disease in either patient group.

There are just a few per cent of the Swedish primary open angle glaucoma patients with genetic variation associated to disease, in the genes analysed in this study. No association to exfoliative glaucoma was found. This indicates heterogeneity in the genetics of glaucoma when different subtypes and different populations are compared. Likely, there are genes still to be identified.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2004. 44 p.
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 0282-7476 ; 1335
Genetics, glaucoma, MYOC, OCLM, GSTM1, OPTN, mutation analysis, Genetik
National Category
Medical Genetics
urn:nbn:se:uu:diva-4142 (URN)91-554-5921-8 (ISBN)
Public defence
2004-05-07, Rudbecksalen, Rudbecklaboratoriet, Dag Hammarskjölds väg 20, Uppsala, 13:15
Available from: 2004-04-14 Created: 2004-04-14Bibliographically approved

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