rs112082622 - LDB3
Magnitude 4.5 · 1 study on file
Reported associations
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Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma - Unknown journal (n.d.) · Unknown authors · PubMed 36450729
ABSTRACT: Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, the leading cause of irreversible blindness worldwide. IOP is also the only modifiable risk factor for glaucoma. Previous genome-wide association studies have established the contribution of common genetic variants to IOP. The role of rare variants for IOP was unknown. Using whole exome sequencing data from 110,260 participants in the UK Biobank (UKB), we conducted the largest exome-wide association study of IOP to date. In addition to confirming known IOP genes, we identified 40 novel rare-variant genes for IOP, such as BOD1L1, ACAD10 and HLA-B, demonstrating the power of including and aggregating rare variants in gene discovery. About half of these IOP genes are also associated with glaucoma phenotypes in
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Intraocular pressure management and glaucoma prevention Moderate
Carriers of rs112082622-T have elevated IOP; discussing monitoring and treatment options with an ophthalmologist is appropriate
Schedule ophthalmologist consultation to discuss IOP levels, glaucoma risk, and preventive management options
Screening
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Intraocular pressure and glaucoma screening Moderate
rs112082622-T is associated with elevated intraocular pressure, the primary modifiable risk factor for glaucoma
Schedule regular eye exams with intraocular pressure measurement; discuss screening frequency with ophthalmologist