rs28939688
This is a variant in the OPTN gene that changes a glutamate to an lysine.
▶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 OPTN
This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
View all OPTN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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