Clouding of the lens is the leading cause of blindness among the elderly. A 2021 multiethnic study found 54 loci, 37 of them new, and one that appeared only in women. Six of the positions it reports are in this catalogue.
A cataract is a clouding of the lens of the eye. It is the leading cause of blindness among the elderly worldwide, and the surgery that replaces the clouded lens is one of the most common operations performed in the United States. Why one lens clouds earlier than another is partly inherited, and until recently little of that inheritance had been located.
Choquet et al. 2021, in Nature Communications, combined genome-wide association results from two large cohorts, GERA and the UK Biobank, across several ancestries, and then tested what it found in the 23andMe research cohort. The catalogue's records of the study give 67,844 people with cataract in the discovery analysis and 347,209 in the replication. The study reports 54 genome-wide significant loci, 37 of them new.
Analysing women and men separately found one more new locus, CASP7, specific to women. The authors then asked whether the genes at these loci are active in the lens. Using iSyTE, a database of gene expression in the developing mouse lens, they found that genes within or near 80% of the loci are significantly expressed or enriched there, and that 32 candidate genes change their expression in 9 different mouse models of lens defects or cataract.
This catalogue holds six of the positions the study reports. The strongest of them is rs17172647, near IGFBP3, the only one filed on this site under cataract: the catalogue records an odds ratio of 1.07 (95% confidence interval 1.06 to 1.08). rs62621812 is a protein-altering variant in ZNF800. Two positions lie at BET1L: rs73386631 and rs11245997.
Two more were already here for other reasons. rs10500355 in RBFOX1 is filed on this site under myopia. rs1800407 is a protein-altering variant in OCA2, a pigmentation gene; the catalogue's record of it from this study comes from the analysis of women. CASP7, the women-specific locus the abstract names, has no position on this page.
One subtype has its own page, written around a different study: age-related nuclear cataracts. The vision topic collects what this site holds on the eye.
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 24 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.
Choquet H et al. 2021, Nature communications rs9842371 (SOX2-OT), rs1014607 (BAMBI), rs10210444 (PLB1), rs112364254 (NPLOC4), rs7184522 (RBFOX1), rs9644861 (CDKN2B-AS1), rs8074331 (RHOT1), rs72868578 (C4orf22), rs2073017 (CASZ1), rs3176459 (CDKN2C), rs1490949 (near RRN3P4), rs17739338 (CAPRIN2) and 6 more — PMID:34127677
Verma A et al. 2024, Science (New York, N.Y.) rs6046142 (SLC24A3), rs10011821 (near FGFR3), rs56029302 (CDC42BPA), rs192060732 (near PSMC1P5) — PMID:39024449
Sakaue S et al. 2021, Nature genetics rs117441875 (LINC02388), rs79721202 (near SMIM38) — PMID:34594039
2026-04-20 · Cheng FF, et al., Nature Genetics 2026, PMID:42009823
Refractive errors affect over half of the world's population. This meta-analysis covered people of European (1,495,159), East Asian (121,172) and African (144,737) ancestry and identified 932 associated variants, 241 of them previously unknown, four specific to East Asian ancestry and one to African ancestry. Fine-mapping pinpointed 16 high-confidence putative causal variants, and 23 prioritised genes are involved in eye development. A polygenic predictor built from the results explained 21.4% of the variation in refractive error and reached an area under the curve of 0.806 for predicting high myopia — a research result, not a test in clinical use. 245 of the study's positions are already on this site, 219 of them on the myopia page, including rs634990 (near GJD2), rs11602008 (LRRC4C) and rs10500355 (RBFOX1), which this site's cataract page also holds. PMID:42009823.
A cataract is diagnosed by an eye examination, not from a genotype. None of the six variants on this page is used by any guideline to predict, screen for or diagnose cataract.
Each variant here shifts the odds by a small amount. Age is the main risk, and an eye examination is what settles whether a lens has clouded and how much it matters. Surgery to replace the lens is the established treatment. The study's mouse-lens results say the loci point at genes that are active in the lens; they do not describe a treatment.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Cataract comes down to these specific, well-studied positions — not a diagnosis. 30 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 3 of 30 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Cataract. MyGeneLog™. https://www.mygenelog.com/conditions/cataract
A clouding of the lens of the eye. It is the leading cause of blindness among the elderly worldwide, and surgery to replace the lens is the established treatment.
Partly. A 2021 multiethnic study found 54 associated loci, 37 of them new. Each has a small effect, and age remains the main risk.
In one respect, in this study: analysing women and men separately found an additional new locus, CASP7, that was specific to women.
No. They are population-level findings of small effect. A cataract is diagnosed by an eye examination, and no guideline uses a genotype to predict it.
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.