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Abstract #8217 Published in IGR 4-3
TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma
Pang CP; Leung YF; Fan B; Baum L; Tong WC; Lee WS; Chua JKH; Fan D; Liu Y; Lam DSCInvestigative Ophthalmology and Visual Science 2002; 43: 3231-3235
PURPOSE: To discover sequence alterations in the TIGR/MYOC gene associated with primary open-angle glaucoma (POAG) in Chinese subjects. METHODS: Two hundred and one unrelated Chinese patients with POAG and 291 unrelated individuals without glaucoma, aged 50 years or more, were screened for sequence alterations in the TIGR/MYOC gene by polymerase chain reaction, conformation sensitive gel electrophoresis, and DNA sequencing. Up to 111 more control subjects were screened for some of the alterations. RESULTS: Fourteen sequence variants that lead to amino acid changes were identified. Seven were novel: Pro16Leu, Ala17Ser, Leu95Pro, Leu215Pro, Glu300Lys, Glu414Lys, and Tyr471Cys. Of these, Glu300Lys and Tyr471Cys were found only in POAG. Arg46Stop was found in four patients with POAG (2.0%) and in nine of 402 control subjects (2.2%); one control subject was homozygous. IOP showed a trend (p = 0.11) toward a decrease of 1.5 mmHg among the control subjects, with Arg46Stop compared with matched control subjects without Arg46Stop. Gly12Arg occurred four times as frequently in control subjects as in patients, but the difference was not statistically significant. CONCLUSIONS: Gly12Arg might be negatively associated with POAG, suggesting a protective effect. Three patients with POAG had a sequence change not found in control subjects, for a frequency of possible disease-causing TIGR/MYOC mutations of 1.5% (95% confidence interval = 0.3-4.3%). Arg46Stop occurred with similar frequency in patients with POAG and control subjects, suggesting that the reduced amount of TIGR/MYOC predicted to result from this truncation does not dramatically increase or decrease risk of glaucoma.
C.P. Pang, Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China. cppang@cuhk.edu.hk
Classification:
1.2 Population genetics (Part of: 1 General aspects)