Dexamethasone (DEX) and triamcinolone acetonide (TA) are widely used in clinical practice for ocular anti-inflammation. The most common side effect of these two corticosteroids is the rise of intraocular pressure that leads to death of the retinal ganglion cells, a feature of POAG. We investigated the differential gene expression profiles induced by DEX and TA treatment in human trabecular meshwork (hTM) cells using microarray technology. A number of genes differentially expressed in hTM cells were identified under DEX and TA treatment, mainly involving in proteolysis, cell adhesion and acute phase response. Five genes (MYOC, GAS1, SENP1, ZNF343 and SOX30) were commonly differentially expressed in both DEX and TA treatment. It indicates that DEX and TA may share similar effect on hTM cells, which may associate with the onset of ocular hypertension. / In one Chinese juvenile onset POAG (JOAG) family with autosomal dominant inheritance, a novel locus at 15822-q24 (GLC1N) was identified using genome-wide scan, supported by clinical, linkage, and haplotype transmission data. The critical region covered a genetic distance of 16.6 Mb. To search for disease genes within this new JOAG locus, we screened NR2E3, SMAD6 and CLN6 for mutations. However, no mutations was found in the family members. We attempted a new gene-based SNPs genotyping approach to search for susceptibility genes to JOAG in this novel locus by using 97 unrelated JOAG patients and 99 unrelated control subjects. Significant association was identified in a set of 6 adjacent SNPs out of 122 gene-based SNPs. Among them, one non-synonymous SNP rs3743171 in the SLC24A1 gene was incompletely segregated in the JOAG family. Our findings indicate the mutation in other regions of SLC24A1 may be responsible for JOAG in this family, or another gene in this region may be the actual cause of glaucoma. / Primary open angle glaucoma (POAG) is a leading cause of visual impairment and blindness worldwide. Genetic factors play a major role in the etiology of POAG. This thesis describes our investigations of the POAG causative genes using genome-wide DNA scanning by linkage/association analysis and RNA level scanning by microarray technology. / Wang Danyi. / "September 2006." / Adviser: Calvin Chi Pui Pang. / Source: Dissertation Abstracts International, Volume: 68-08, Section: B, page: 5155. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2006. / Includes bibliographical references (p. 139-181). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Electronic reproduction. [Ann Arbor, MI] : ProQuest Information and Learning, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstracts in English and Chinese. / School code: 1307.
| Identifer | oai:union.ndltd.org:cuhk.edu.hk/oai:cuhk-dr:cuhk_343823 |
| Date | January 2006 |
| Contributors | Wang, Danyi, Chinese University of Hong Kong Graduate School. Division of Ophthalmology and Visual Sciences. |
| Source Sets | The Chinese University of Hong Kong |
| Language | English, Chinese |
| Detected Language | English |
| Type | Text, theses |
| Format | electronic resource, microform, microfiche, 1 online resource (xxvi, 182 p. : ill.) |
| Rights | Use of this resource is governed by the terms and conditions of the Creative Commons “Attribution-NonCommercial-NoDerivatives 4.0 International” License (http://creativecommons.org/licenses/by-nc-nd/4.0/) |
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