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Optic Atrophy, as genome-wide studies have reported it: 29 positions from 2 studies, the largest recording 7,831 cases and 616,616 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Genome-wide studies have so far placed 29 positions on Optic Atrophy, from 2 studies; the GWAS Catalog files the condition as "Optic atrophy". MyGeneLog's code assembles this page from those records and rebuilds it when a new position is reported — nothing here was written by hand, and nothing here goes beyond what the records say.
A study. From it, 28 positions on this page: rs1020764190 (AFG3L2), rs1057368575 (WFS1), rs1064797303 (OPA1), rs1333985048 (ABCA4), rs1553784985 (OPA1), rs1553785338 (OPA1), rs1560327427 (OPA1), rs1732086609 (OPA1), and 20 more.
Verma A et al. 2024, in Science — Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. The catalogue records its sample as 7,831 cases and 616,616 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). It contributes one position: rs144654840 (near LINC02063). PMID:39024449.
The 29 positions sit in or beside 6 genes: AFG3L2, WFS1, OPA1, ABCA4, GPR179, LINC02063. These are locations, as the catalogue records them; whether any of these genes is how a position acts is a question the records leave open.
Of all these, rs144654840 near LINC02063 carries the strongest signal: P = 3 × 10-11, in Verma A et al. 2024.
It is a record of what genome-wide studies have reported about Optic Atrophy, kept current by code. It is not a description of the condition, an estimate of how common it is, or guidance of any kind — a page that took those from association records would be inventing them. Each variant page linked here carries that study's own record for the position in fixed sentences, and ClinVar's record where one exists.
A genotype does not diagnose Optic Atrophy; a clinician does. No guideline uses the 29 variants on this page to predict it, screen for it or confirm it.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask a clinician.
Databases, guidelines and references
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Optic Atrophy. MyGeneLog™. https://www.mygenelog.com/conditions/optic-atrophy
Optic Atrophy is the condition the GWAS Catalog files under "Optic atrophy". This page does not define it in its own words; it lists what genome-wide studies have reported: 29 positions from 2 studies, with each study's sample and citation.
Genome-wide studies have reported 29 associated positions; the largest study behind this page recorded 7,831 cases and 616,616 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The positions lie in or near 6 genes: AFG3L2, WFS1, OPA1, ABCA4, GPR179, LINC02063. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Optic Atrophy is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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