A 139,555-person meta-analysis found 112 genetic loci linked to eye pressure, the single biggest known risk factor for glaucoma — 7 of them are on this page.
Intraocular pressure (IOP) is the fluid pressure inside the eye, measured in millimeters of mercury (mmHg) at a routine eye exam. It is the single most important known risk factor for primary open-angle glaucoma, the leading cause of irreversible blindness worldwide, though raised pressure and glaucoma are not the same thing — some people develop glaucoma at normal pressure, and some tolerate high pressure without optic nerve damage.
A 2018 meta-analysis of 139,555 people of European ancestry found 112 genomic loci associated with IOP, 68 of them newly discovered by this study. The associated genes pointed to several biological themes: angiopoietin-receptor tyrosine kinase signaling, lipid metabolism, mitochondrial function, and eye development. This page carries 7 of those 112 loci — in ANKH, EMCN, FER, FNDC3B (two variants), and OXR1 (two variants) — chosen because each independently cleared genome-wide significance in our own catalogue, not because the paper singled them out individually among its 112.
Of the study's 112 IOP loci, 48 were also nominally linked to glaucoma itself in a separate cohort, and 14 of those held up at a stricter, Bonferroni-corrected threshold — direct evidence that the pressure signal and the disease signal overlap, but only partially. A prediction model built from the genetic findings reached an AUROC of 0.76 in one glaucoma cohort and 0.74 in a second, independent one — better than chance (0.50), well short of a diagnostic test.
Two of this page's genes, ANKH and FNDC3B, are also linked to the site's glaucoma page through separate glaucoma-specific findings — consistent with the paper's own point that pressure and disease risk partly, not fully, share a genetic basis.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 25 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Khawaja AP et al. 2018, Nature genetics rs10852918 (GAS7), rs12139208 (PKN2-AS1), rs10281637 (CAV2), rs9405157 (GMDS), rs1286771 (RARB), rs9530143 (KLF5), rs34447926 (LTBP1), rs2433414 (ME3), rs9364973 (TMEM181), rs57435966 (TRAF3IP1), rs62520913 (FBXO32), rs3785855 (BCAS3) and 1 more — PMID:29785010
Han X et al. 2020, JAMA ophthalmology rs31916 (ANKH), rs111439095 (LMO7), rs3007364 (LINC00970), rs13274594 (ANGPT1) — PMID:32352494
Craig JE et al. 2020, Nature genetics rs756481 (SYN3), rs2188836 (CTTNBP2), rs62172701 (PARD3B), rs2881425 (ABRA) — PMID:31959993
Huang L et al. 2019, Science China. Life sciences rs12504231 (HS3ST1), rs7047871 (GLIS3) — PMID:30591961
Springelkamp H et al. 2017, Human molecular genetics rs2487048 (ABCA1) — PMID:28073927
Bonnemaijer PWM et al. 2019, Communications biology rs28503222 (CAV2) — PMID:31798171
2026-05-26 · Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension. Ophthalmology Science. 2026. DOI:10.1016/j.xops.2026.101248
A steroid eye injection can spike eye pressure in some people -- UBE2E3 variants may explain who
Glucocorticoid (steroid) eye treatment, commonly given by intravitreal injection for conditions like diabetic macular edema, can cause intraocular pressure (IOP) to spike in some patients but not others, and the genetic basis was unknown. This study measured maximal IOP change within 6 months of glucocorticoid exposure in 530 participants from the FAME diabetic macular edema trials, with replication in an independent cohort of 588 patients. Two variants in the same gene reached genome-wide significance: rs13425173 in UBE2E3 (P=2.88x10^-8) in the primary discovery analysis, and rs1040227, also in UBE2E3, in the combined meta-analysis (P=1.23x10^-8). Colocalization analysis linked this locus to UBE2E3 expression regulation across six tissues including the aorta, and a separate whole-exome sequencing gene-burden analysis found MSTO1 rare variants also associated with the outcome after correcting for multiple testing. This is a genuinely pharmacogenetic finding -- not about who gets high eye pressure in general, but specifically who reacts to this particular drug exposure with a pressure spike, with direct relevance to monitoring decisions before and after steroid eye injections. This site's intraocular pressure page carries 13 variants; UBE2E3 is not currently among them and represents a drug-response-specific addition distinct from the page's existing general IOP genetics.
Intraocular pressure is measured directly at an eye exam with a tonometer, not estimated from genotype, and no variant on this page is used clinically to diagnose glaucoma or decide on pressure-lowering treatment. The variants here describe genetic contributors to baseline eye pressure in the general population — they are a research finding, not a screening tool.
Glaucoma itself is diagnosed by an eye care professional using pressure measurement together with optic nerve examination and visual field testing, not by any variant on this page. See the glaucoma page for the disease itself.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Intraocular Pressure comes down to these specific, well-studied positions — not a diagnosis. 40 positions are linked to this page; the ones this page's own text discusses are shown first.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 32 of 40 linked studies with a resolved discovery ancestry.
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Intraocular Pressure. MyGeneLog™. https://www.mygenelog.com/conditions/intraocular-pressure
The fluid pressure inside the eye, measured in millimeters of mercury (mmHg) at a routine eye exam. It is the single most important known risk factor for primary open-angle glaucoma.
In 139,555 people of European ancestry, it found 112 genomic loci associated with IOP, 68 of them newly discovered. This page carries 7 of those 112.
No. Only 48 of the study's 112 IOP loci were even nominally linked to glaucoma itself, and just 14 held up at a strict statistical threshold — raised pressure and glaucoma overlap partially, not completely, at the genetic level. Glaucoma is diagnosed by an eye care professional, not by genotype.
No individual variant does with certainty. IOP is measured directly with a tonometer at an eye exam, not estimated from genotype.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.