Classic Bladder Exstrophy, as genome-wide studies have reported it: 4 positions from 2 studies, the largest recording 628 cases and 7,352 controls (European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Classic Bladder Exstrophy — filed in the GWAS Catalog as "Classic bladder exstrophy" — is a condition this catalogue follows as its positions arrive. This page is assembled by MyGeneLog's own code from the catalogue's records and the studies' own listings: 4 positions from 2 studies, and no sentence written by hand. It is rebuilt as new positions are reported, so what it says is what the records say today.
Mingardo E et al. 2022, in Communications Biology — A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. The catalogue records its sample as 628 cases and 7,352 controls (European ancestry). From it, 3 positions on this page: rs6874700 (near HMGB1P47), rs80215221 (near HSPA8P9), rs1924557 (ADGRL2). PMID:36352089.
Draaken M et al. 2015, in PLoS Genetics — Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. Studied in 208 cases and 1,703 controls (European ancestry). It contributes one position: rs9291768 (ISL1). PMID:25763902.
The catalogue maps the 4 positions to 4 genes: HMGB1P47, HSPA8P9, ADGRL2, ISL1. 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 rs6874700 near HMGB1P47, reported by Mingardo E et al. 2022 at P = 6 × 10-24, with an odds ratio of 1.91.
Read this page as a list of findings about Classic Bladder Exstrophy, not as an account of it. Each finding is a position that a genome-wide study linked to the condition across a population; the page adds no description, no prevalence and no advice, because the records hold none. The variant pages linked above give each study's record for its position, and ClinVar's where one exists.
Classic Bladder Exstrophy is diagnosed by a clinician — not from a genotype. None of the 4 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.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Classic Bladder Exstrophy comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 1 of 4 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Classic Bladder Exstrophy. MyGeneLog™. https://www.mygenelog.com/conditions/classic-bladder-exstrophy
Classic Bladder Exstrophy is the condition the GWAS Catalog files under "Classic bladder exstrophy". This page does not define it in its own words; it lists what genome-wide studies have reported: 4 positions from 2 studies, with each study's sample and citation.
Genome-wide studies have reported 4 associated positions; the largest study behind this page recorded 628 cases and 7,352 controls (European 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 4 genes: HMGB1P47, HSPA8P9, ADGRL2, ISL1. These are where the positions sit, not proof of how they act.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Classic Bladder Exstrophy from a genotype; a clinician diagnoses 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.