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WL M Alward, YH Kwon, CL Khanna, AT Johnson, SS Hayreh, MB Zimmerman, JH Fingert, BR Roos, VC Sheffield, EM Stone; Myocilin mt1 Promoter Polymorphisms in Adult-onset Primary Open Angle Glaucoma . Invest. Ophthalmol. Vis. Sci. 2002;43(13):3012.
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Purpose:A polymorphism in the promoter region of the myocilin glaucoma gene (MYOC.mt1) has recently been reported to portend a poor response to glaucoma treatment. We sought to determine whether adult-onset primary open angle glaucoma (POAG) patients with the MYOC.mt1 promoter polymorphism differed from other POAG patients in any measure of glaucoma severity. Methods:We recruited a consecutive, unselected series of 394 adult-onset POAG patients. The prevalence of the MYOC.mt1 promoter polymorphism was measured in these patients and 92 normal control individuals from the same population. Clinical features of patients with the MYOC.mt1 promoter polymorphism were compared to those without the polymorphism. These features included: age at diagnosis, age at first treatment, highest IOP, C/D ratio, visual field loss, number of medications, need for trabeculoplasty, and number of surgeries. Female patients were looked at as a subgroup because of a published finding suggesting that an estrogen response element in the promoter region might cause them to exhibit a more deleterious response to this polymorphism. Results:The MYOC.mt1 promoter polymorphism was found in 61 (15.82%) of 394 POAG patients and 22 (23.91%) of 92 normal controls. The clinical features of adult-onset POAG patients with the MYOC.mt1 promoter polymorphism were no different than those without the polymorphism. When women were examined separately there was again no MYOC.mt1 promoter polymorphism effect found on any of the clinical features measured. Conclusion:The MYOC.mt1 promoter polymorphism is a common and insignificant DNA sequence variation, found as often among normal volunteers as among POAG patients. POAG patients with the MYOC.mt1 promoter polymorphism were no different than those without this variant in any of the clinical features measured. Testing for the MYOC.mt1 promoter polymorphism does not appear to be of clinical value.
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