title: The genetics of intraocular pressure.
abstract: Glaucoma is a leading cause of irreversible blindness. Intraocular pressure (IOP) is the only modifiable risk factor for glaucoma, yet there is little known about the molecular events that regulate IOP. Genetic and genomic studies have helped identify genes that influence IOP and could lead to the identification of biological pathways that serve as targets for novel pressure-modifying therapies. Genetic linkage studies resulted in the identification of several genes that cause Mendelian (autosomal dominant or autosomal recessive) forms of high-pressure glaucoma, including MYOC. PITX2, FOXC1, and CYP1B1. Classical twin studies suggest that IOP is a heritable trait. More recently, genome-wide association studies (GWAS) have shown that common genetic variants in the GAS7 and TMCO1 genomic regions are associated with elevated IOP. TMCO1 has also been associated with primary open-angle glaucoma in patients with advanced disease. A further study identifying additional genes contributing to IOP will be necessary to fully define the underlying genetic architecture of IOP.
authors.affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston , Massachusetts , USA and.
authors.forename: Pallavi
authors.initials: P
authors.lastname: Ojha
authors.forename: Janey L
authors.initials: JL
authors.lastname: Wiggs
authors.forename: Louis R
authors.initials: LR
authors.lastname: Pasquale
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D051858:Forkhead Transcription Factors / Q000235:genetics; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005901:Glaucoma / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007429:Intraocular Pressure / Q000235:genetics*; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics; D000097577:Homeobox Protein PITX2; D000099179:Myocilin
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D051858:Forkhead Transcription Factors; D006023:Glycoproteins; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; D000099179:Myocilin; C112743:FOXC1 protein, human; C585496:CYP1B1 protein, human