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Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma by E Colomb; TD Nguyen; A Béchetoille; J-C Dascotte; F Valtot; AP Brézin; M Berkani; B Copin; L Gomez; JR Polansky; H-J Garchon is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma about?
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=3×10^−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 visua
Who reads Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- E Colomb; TD Nguyen; A Béchetoille; J-C Dascotte; F Valtot; AP Brézin; M Berkani; B Copin; L Gomez; JR Polansky; H-J Garchon
- Publisher
- John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0009-9163)
- Published
- 2002
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)