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Abstract #10297 Published in IGR 6-1

Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients

Fan BJ; Leung YF; Pang CP; Baum L; Tam OS; Wang N; Lam SC
Chinese Journal of Medical Genetics 2004; 21: 70-73


OBJECTIVE: To detect single nucleotide polymorphisms (SNPs) of the myocilin (MYOC) gene and to investigate their associations with primary open-angle glaucoma (POAG). METHODS: One hundred and fifty-seven sporadic patients with POAG and 155 unrelated control subjects without POAG were recruited from staff and visitors to the Prince of Wales Hospital between 1998 and 2000. All study subjects are ethnic Chinese living in Hong Kong. The two populations were matched in frequencies of gender and age. The SNPs of the MYOC gene in POAG patients and control subjects were screened and identified by high throughout conformation sensitive gel electrophoresis and fluorescent labeling automated sequencing. The genotype frequencies of each SNP in the two groups were compared by the Chi-square test or Fisher's exact two-tailed test. RESULTS: A total of 17 SNPs were identified from 2172 bp long of the MYOC gene, including all three exons and adjacent non-coding regions. The identified SNPs were 1-83G → A, G12R, P16L, A17S, R46X, R76K, R91X, T123T, D208E, L215P, 730q-35A → G, A260A, I288I, E300K, T353I, Y471C and 1515+73G → C, respectively. Of these, R91X, E300K and Y471C were found only in POAG patients. A significant difference between POAG patients and control subjects was found in the genotype frequencies of 1515+73G → C. The frequency of the heterozygote (CG) was 0.6% in POAG patients, significantly less than the 4.5% in control subjects (Fisher's exact two-tailed test, p = 0.036, OR = 0.136, 95% CI = 0.022-0.828). No significant difference was found between the two populations in genotype frequencies of all other SNPs. CONCLUSION: The polymorphisms of the MYOC gene may be related to POAG. LA: Chinese

Dr. C.P. Pang, Department of Ophthalmology and Visual Science, Chinese University of Hong Kong, Hong Kong


Classification:

3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)



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