Umbilical Hernia, as genome-wide studies have reported it: 22 positions from 3 studies, the largest recording 20,188 cases and 602,677 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
3 studies in the GWAS Catalog report 22 positions for Umbilical Hernia, which the catalogue files as "Umbilical hernia". MyGeneLog follows the condition as positions arrive: code builds this page from the records, adds each new position when it is reported, and writes no sentence of its own beyond them.
Wei J et al. 2022, in Hernia — Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank. Sample in the catalogue's record: 3,211 cases and 272,335 controls (European ancestry). From it, 20 positions on this page: rs3902972 (near ZC3H11B), rs1415288 (near LYPLAL1-AS1), rs1415290 (LYPLAL1-AS1), rs2993027 (LYPLAL1-AS1), rs4846564 (LYPLAL1-AS1), rs2785981 (LYPLAL1-AS1), rs2785984 (LYPLAL1-AS1), rs10779358 (LYPLAL1-AS1), and 12 more. PMID:34382107.
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 20,188 cases and 602,677 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). From it, one position on this page: rs35001652 (EPHB2). PMID:39024449.
Ahmed WU et al. 2022, in PloS One — Shared genetic architecture of hernias: A genome-wide association study with multivariable meta-analysis of multiple hernia phenotypes. The catalogue records its sample as 5,356 cases and 26,780 controls (European ancestry). It contributes one position: rs12707188 (CALD1). PMID:36584111.
The 22 positions lie in or near 5 genes: ZC3H11B, LYPLAL1-AS1, FMN1, EPHB2, CALD1. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
Of all these, rs3902972 near ZC3H11B carries the strongest signal: P = 10-23, with an odds ratio of 1.26, in Wei J et al. 2022.
It is a record of what genome-wide studies have reported about Umbilical Hernia, 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.
Nothing on this page diagnoses Umbilical Hernia. The 22 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Umbilical Hernia comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Umbilical Hernia. MyGeneLog™. https://www.mygenelog.com/conditions/umbilical-hernia
Umbilical Hernia is the condition the GWAS Catalog files under "Umbilical hernia". This page does not define it in its own words; it lists what genome-wide studies have reported: 22 positions from 3 studies, with each study's sample and citation.
Genes play a part: 22 positions have been linked to it, the largest study recording 20,188 cases and 602,677 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). But each is a common variant of small effect, and a link found across a population does not cause the condition in any one person.
The catalogue maps the positions to 5 genes: ZC3H11B, LYPLAL1-AS1, FMN1, EPHB2, CALD1. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Umbilical Hernia is diagnosed by a clinician, 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.