rs1270841723
This variant is located in the MYOC gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Intraocular Pressure Response to Topical β-Blockers Associated With an ADRB2 Single-Nucleotide PolymorphismAssociationN=210McCarty CA et al.(2008)· Archives of Ophthalmology
This pharmacogenetic study of 210 subjects from the Personalized Medicine Research Project examined whether polymorphisms in β-adrenergic receptor genes and CYP2D6 are associated with intraocular pressure (IOP) response to topical β-blockers. A coding SNP in ADRB2 (rs1042714, Gln27Glu) was significantly associated with increased IOP response (≥20% reduction) with an odds ratio of 2.00 (95% CI, 1.00-4.02; P=.05). CYP2D6 phenotypes and optineurin/myocillin polymorphisms were not significantly associated with IOP response.
About MYOC
MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]
View all MYOC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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