It was reported that PTGS2, located on chromosome 1q23-q25, might be related to POAG (GLC1A) .
de Dinechin et al., "Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25," Genomics, vol.
In this study, we screened for mutations in chromosome 1q-linked open-angle glaucoma (GLC1A) in a Chinese family with primary open-angle glaucoma (POAG).
Among them, four genes, including trabecular meshwork (TM) inducible glucocorticoid response (myocilin [ MYOC ], OMIM 601652), optineurin (OMIM 602432), human dioxin-inducible cytochrome P450 ( CYP1B1 , OMIM: 601771), and WD repeat-containing protein 36 (OMIM 609669), have been identified to be primarily responsible for POAG.[sup] As the most frequently mutated gene inPOAGfamilies, MYOC locates at GLC1A (OMIM 601652) locus on chromosome 1q23.[sup], Therefore, in a newly identified Chinese family with POAG, we screened for mutations at GLC1A locus to localize mutations that might be responsible for this pedigree.
MYOC gene locates at GLC1A locus on chromosome 1q23, includes three exons and encodes for 57kD MYOC protein, which is the first gene identified to be responsible for POAG.[sup], MYOC protein is expressed in various ocular tissues, including cornea, sclera, iris, ciliary body, retina, and optic nerve head, but most abundant in TM cells.[sup] Most glaucoma-causing MYOC mutants are misfolded, aggregation-prone, detergent-insoluble, and accumulated in the endoplasmic reticulum, which result in cytotoxicity in TM cells.
A major gene linked to primary open angle glaucoma (POAG) is the gene coding for the protein myocilin and this gene locus (GLC1A) probably accounts for 10-33% of juvenile cases.
Five of these loci, designated GLC1A to GLC1E, are associated with forms of primary open angle glaucoma and two loci, designated GLC3A and GLC3B associated with PCG.
Although more than 100 potentially disease causing mutations have been identified in the TIGR/MYOC gene and remarkably, most of them located in exon 3 (Human Gene Mutation Database Cardiff, HGMD), several large studies have shown that only 3 to 5% from POAG patients carry mutations in the MYOC (GLC1A) gene (Michels-Rautenstrauss et al.
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A).