| Autor: |
Colomb E; INSERM U25, Paris, France., Nguyen TD, Béchetoille A, Dascotte JC, Valtot F, Brézin AP, Berkani M, Copin B, Gomez L, Polansky JR, Garchon HJ |
| Jazyk: |
angličtina |
| Zdroj: |
Clinical genetics [Clin Genet] 2001 Sep; Vol. 60 (3), pp. 220-5. |
| DOI: |
10.1034/j.1399-0004.2001.600308.x |
| Abstrakt: |
Primary open-angle glaucoma (POAG) is a highly prevalent optic neuropathy and a major cause of irreversible blindness, with elevation of intraocular pressure (IOP) being a primary risk factor. The trabecular meshwork-inducible glucocorticoid response (TIGR)/MYOCILIN (MYOC) gene coding region is mutated in 3-4% of POAG patients. Here, in a retrospective study of 142 POAG patients, we evaluated the influence on glaucoma phenotype of a novel biallelic polymorphism (-1000C/G) located in the upstream region of the MYOC gene. Allele frequencies were similar among patients and controls. However, the G allele (frequency 17.6%), also designated as MYOC.mt1, was associated with an increased IOP (+4.9 mmHg, p=0.0004) and a more damaged visual field (p=0.02). Both effects were predominant in females. Moreover, whereas IOP in MYOC.mt1 noncarriers decreased very markedly to the normal range between diagnosis and inclusion in the study (p=3 x 10(-5) in both males and females), reflecting successful therapy, it decreased less noticeably in MYOC.mt1+ male patients (p=0.005) and not at all in MYOC.mt1+ female patients. MYOC.mt1 appears therefore to be an indicator of poor IOP control and greater visual field damage in diagnosed POAG patients, potentially due to a lack of response to therapeutic intervention. Its typing might help in the selection of treatment paradigms for the management of POAG patients. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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