Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.

@article{Colomb2001AssociationOA,
  title={Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.},
  author={Evelyne Colomb and Thi Phuong Dung Nguyen and Alain B{\'e}chetoille and J C Dascotte and Françoise Valtot and Antoine Pierre Br{\'e}zin and Malika Berkani and Bruno Copin and Lucienne Gomez and Jon R. Polansky and Henri-Jean Garchon},
  journal={Clinical genetics},
  year={2001},
  volume={60 3},
  pages={220-5}
}
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… CONTINUE READING
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