| Research Abstract |
The myocilin gene was identified as a gene (MYOC) that caused open angle glaucoma. Single strand conformation polymorphism analysis and subseauent sequence analysis were performed for genotyping the myocilin gene in 119 unrelated Japanese patients with primary open angle glaucoma (POAG), 114 patients withnormal tension glaucoma (NTG), and 100 control subjects without glaucoma. Nine sequence changes, including 5 amino acid sequence changes, were identified : Promotorl-83 G→A (10 POAG, four NTG, seven control), Arg46Stop (one NTG), Arg76Lys (10 POAG, fourNTG, seven control), Thrl23Thr (one POAG, one control), Argl58Gln (one POAG, one NTG, one control), Asp20.8Glu (three POAG, four NTG, one control), Pro481Ser (one control), Ala488Ala (one POAG, two control), 1515+20 G→A. (one NTG).
Pro481Serwasnovel. Arg46Stopwas found inonly 1 patient withNTG in this study. However, the subjects without glaucoma, who were heterozygous or homozygous for Arg46Stop, were previously reported.
Arg76Lys is cons
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idered to be a non-disease-causing polymorphism and always occurred with the 1-83 (G→A) in the promoter region. This haplotype may be specific to the Asian population. Argl58Gln is an only missense sequence change found in the leucine zipper-like motif region of the myocilin in subjects showing various phenotypes. Argl58Gln is probably a rare nondisease-causing polymorphism, because it was found in a control subject, although Argl58Gln Was previously reported as a probable disease-causing mutation. When the patients with open angle glaucoma were compared with control subjects, there was a trend toward an association of Asp208Glu with the presence of glaucoma.
Interestingly, the combination of Asp208Glu and Pro481Serwas only found in a control. The interaction of Pro481Ser might have a protective effect. However, it was reported that Asp208Glu was found in five of 100 unrelated control subjects without glaucoma, which suggests that Arg208Glu is probably -a nondisease-causing polymorphism. Less
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