Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time.

Autor: Polansky JR; Cellular Pharmacology, Department of Ophthalmology, University of California, San Francisco, CA 94143, USA. rpj9027@itsa.ucsf.edu, Juster RP, Spaeth GL
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2003 Jul; Vol. 64 (1), pp. 18-27.
DOI: 10.1034/j.1399-0004.2003.00099.x
Abstrakt: 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.
Databáze: MEDLINE