advertisement
Abstract #10296 Published in IGR 6-1
Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma
Toda Y; Tang S; Kashiwagi K; Mabuchi F; Iijima H; Tsukahara S; Yamagata ZAmerican Journal of Medical Genetics 2004; 125: 1-4
The optineurin gene (OPTN) was identified as a gene that causes primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). In order to investigate the frequency of sequence changes in OPTN in Japanese glaucoma patients, single-strand conformation polymorphism analysis and subsequent sequence analysis were performed for genotyping OPTN in 165 unrelated Japanese patients with POAG and 148 patients with NTG, with 196 control subjects without glaucoma as reference subjects. Out of four mutations reported to be associated with risk and to cause disease in Caucasian patients, sequence alterations in 458G > A and 691_692insAG were not detected in any investigated Japanese patients with glaucoma, and alterations in 1944G > A and 603T > A, were present in similar frequencies in glaucoma patients and control subjects. The current results suggest that there may be certain racial differences between Japanese and Caucasians with respect to OPTN genotypes.
Dr. K. Kashiwagi, Department of Ophthalmology, Yamanashi Medical University, 1110 Shimokato, Tamaho, Yamanashi 409-3898, Japan
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.2.4 Normal pressure glaucoma (Part of: 9 Clinical forms of glaucomas > 9.2 Primary open angle glaucomas)
