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Molecular Genetic Studies of Genes Predisposing for Glaucoma
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology.
2004 (English)Doctoral thesis, comprehensive summary (Other academic)Alternative title
Molekylärgenetiska studier av gener som predisponerar för glaukom (Swedish)
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. , p. 44
Series
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 0282-7476 ; 1335
Keywords [en]
Genetics, glaucoma, MYOC, OCLM, GSTM1, OPTN, mutation analysis
Keywords [sv]
Genetik
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-4142ISBN: 91-554-5921-8 (print)OAI: oai:DiVA.org:uu-4142DiVA, id: diva2:164309
Public defence
2004-05-07, Rudbecksalen, Rudbecklaboratoriet, Dag Hammarskjölds väg 20, Uppsala, 13:15
Opponent
Supervisors
Available from: 2004-04-14 Created: 2004-04-14 Last updated: 2018-01-13Bibliographically approved
List of papers
1. Allelic Variants in the MYOC/TIGR Gene in Patients with Primary Open Angle, Exfoliative Glaucoma and Unaffected Controls
Open this publication in new window or tab >>Allelic Variants in the MYOC/TIGR Gene in Patients with Primary Open Angle, Exfoliative Glaucoma and Unaffected Controls
Show others...
2003 In: Ophthalmic Genetics, ISSN 1381-6810, Vol. 24, no 2, p. 103-110Article in journal (Refereed) Published
Identifiers
urn:nbn:se:uu:diva-91536 (URN)
Available from: 2004-04-14 Created: 2004-04-14Bibliographically approved
2. Evaluation of the Oculomedin Gene in the Etiology of Primary Open Angle and Exfoliative Glaucoma
Open this publication in new window or tab >>Evaluation of the Oculomedin Gene in the Etiology of Primary Open Angle and Exfoliative Glaucoma
2003 In: Molecular Vision, ISSN 1090-0535, Vol. 9, p. 93-95Article in journal (Refereed) Published
Identifiers
urn:nbn:se:uu:diva-91537 (URN)
Available from: 2004-04-14 Created: 2004-04-14Bibliographically approved
3. Analysis of the Glutathione S-transferase M1 gene using Pyrosequencing and multiplex PCR – no evidence of association to glaucoma
Open this publication in new window or tab >>Analysis of the Glutathione S-transferase M1 gene using Pyrosequencing and multiplex PCR – no evidence of association to glaucoma
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2003 In: Experimental Eye Research, ISSN 0014-4835, Vol. 77, no 2, p. 239-243Article in journal (Refereed) Published
Identifiers
urn:nbn:se:uu:diva-91538 (URN)
Available from: 2004-04-14 Created: 2004-04-14Bibliographically approved
4. Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases
Open this publication in new window or tab >>Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases
In: Archives of Ophthalmology, ISSN 0003-9950Article in journal (Refereed) Submitted
Identifiers
urn:nbn:se:uu:diva-91539 (URN)
Available from: 2004-04-14 Created: 2004-04-14Bibliographically approved

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