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Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time
Author(s) -
Polansky JR,
Juster RP,
Spaeth GL
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00099.x
Subject(s) - myocilin , glaucoma , disease , medicine , ophthalmology , proportional hazards model , genotype , open angle glaucoma , gene , genetics , biology
A major variant of myocilin (MYOC) [TIGR/MYOC mt.1 (−1000 C/G)], present in the gene's promoter, is found to be associated with more rapid progression of the glaucoma disease state. Time‐to‐event analyses using the Cox proportional hazards model produced substantial statistical evidence that this TIGR/MYOC mt.1(+) variant accelerates worsening for both optic disc and visual field measures of disease progression. These analyses were based on evaluations of 147 patients with primary open‐angle glaucoma (POAG) over 35 years of age with an average follow‐up of approximately 15 years. Our analyses showed that there are independent effects of the variant on disease progression, taking into account other relevant disease‐related baseline risk factors, including age, family history, initial drug treatment, initial surgical treatment, diabetes, gender, myopia, and initial disease severity. The finding that a TIGR/MYOC mt.1(+) determination provided a strong marker for glaucoma progression, above and beyond the other baseline risk factors, suggests a clinical utility in testing for this promoter genotype.