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Retinitis Pigmentosa, as genome-wide studies have reported it: 374 positions from 2 studies, the largest recording 276 cases and 295,236 controls (European ancestry, East Asian ancestry). Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
This is the record of what genome-wide association studies have found for Retinitis Pigmentosa (the GWAS Catalog's "Retinitis pigmentosa"): 374 positions reported by 2 studies. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
A study. The 372 positions on this page from it: rs1003869920 (USH2A), rs1028371920 (CNGB1), rs1029564423 (EYS), rs1035024403 (USH2A), rs1037963003 (CNGA1), rs1044562973 (CERKL), rs1057520752 (PRPF31), rs1064793237 (PRPH2), and 364 more.
Sakaue S et al. 2021, in Nature Genetics — A cross-population atlas of genetic associations for 220 human phenotypes. Sample in the catalogue's record: 276 cases and 295,236 controls (European ancestry, East Asian ancestry). It contributes 2 positions: rs1006786441 (near LINC01934), rs1021821604 (near DNAJC10). PMID:34594039.
The catalogue maps the 374 positions to 73 genes: USH2A, CNGB1, EYS, CNGA1, CERKL, PRPF31, PRPH2, ABCA4, REEP6, CRB1, PDE6A, RDH12, VPS13B, SAG, PDE6B, NR2E3, GNAT1, MAK, PROM1, TULP1 and 53 more. That mapping says where a position sits, in a gene or beside one — not what it does. For what each study measured, follow its citation above.
The strongest association in the records is rs1006786441 near LINC01934, reported by Sakaue S et al. 2021 at P = 3 × 10-10.
Association records say which positions differ, on average, between people with Retinitis Pigmentosa and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Retinitis Pigmentosa is diagnosed by a clinician — not from a genotype. None of the 374 variants on this page is used by any guideline to predict, screen for or diagnose it.
Its sources are association records, and association records carry no clinical guidance, so neither does this page. What a genome-wide study reports is a difference between groups of people, not a finding about any one person. Symptoms, tests and treatment are questions for a clinician.
Databases, guidelines and references
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Retinitis Pigmentosa. MyGeneLog™. https://www.mygenelog.com/conditions/retinitis-pigmentosa
Retinitis Pigmentosa is the condition the GWAS Catalog files under "Retinitis pigmentosa". This page does not define it in its own words; it lists what genome-wide studies have reported: 374 positions from 2 studies, with each study's sample and citation.
Genome-wide studies have reported 374 associated positions; the largest study behind this page recorded 276 cases and 295,236 controls (European ancestry, East Asian ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The catalogue maps the positions to 73 genes: USH2A, CNGB1, EYS, CNGA1, CERKL, PRPF31, PRPH2, ABCA4, REEP6, CRB1, PDE6A, RDH12, VPS13B, SAG, PDE6B, NR2E3, GNAT1, MAK, PROM1, TULP1 and 53 more. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Retinitis Pigmentosa is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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