rs11230523 - OR4P4 - OR4S2
Magnitude 2.2 · 1 study on file
Reported associations
-
Genome-wide association analyses identify new loci influencing intraocular pressure. - Human molecular genetics (2019) · Gao XR, Huang H, Nannini DR, Fan F, Kim H · PubMed 29617998
Elevated intraocular pressure (IOP) is a significant risk factor for glaucoma, the leading cause of irreversible blindness worldwide. While previous studies have identified numerous genetic variants associated with IOP, these loci only explain a fraction of IOP heritability. Recently established of biobank repositories have resulted in large amounts of data, enabling the identification of the remaining heritability for complex traits. Here, we describe the largest genome-wide association study of IOP to date using participants of European ancestry from the UK Biobank. We identified 671 directly genotyped variants that are significantly associated with IOP (P < 5 × 10-8). In addition to 103 novel loci, the top ranked novel IOP genes are LMX1B, NR1H3, MADD and SEPT9. We replicated t
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
-
discuss intraocular pressure risk with ophthalmologist Moderate
Genetic predisposition to elevated intraocular pressure warrants professional assessment and individualized monitoring strategy
Inform ophthalmologist of genetic risk; request baseline IOP measurement and glaucoma risk assessment
Screening
-
intraocular pressure screening Moderate
Genetic variation is associated with elevated intraocular pressure, a primary risk factor for glaucoma
Begin regular eye pressure checks in early adulthood; annual or biennial monitoring recommended