Infantile Hypertrophic Pyloric Stenosis, as genome-wide studies have reported it: 2 positions from 1 study, the largest recording 1,395 cases and 4,438 controls. Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
Infantile Hypertrophic Pyloric Stenosis — filed in the GWAS Catalog as "Infantile hypertrophic pyloric stenosis" — 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: 2 positions from 1 study, and no sentence written by hand. It is rebuilt as new positions are reported, so what it says is what the records say today.
Fadista J et al. 2019, in Human Molecular Genetics — Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis. Studied in 1,395 cases and 4,438 controls. The 2 positions on this page from it: rs573872 (LINC02006), rs1933683 (near BARX1). PMID:30281099.
The 2 positions sit in or beside 2 genes: LINC02006, BARX1. 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.
Fadista J et al. 2019 reported the smallest P value on this page — P = 2 × 10-15, with an odds ratio of 1.32 — at rs573872 in LINC02006.
It is a record of what genome-wide studies have reported about Infantile Hypertrophic Pyloric Stenosis, 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.
Infantile Hypertrophic Pyloric Stenosis is diagnosed by a clinician — not from a genotype. None of the 2 variants on this page is used by any guideline to predict, screen for or diagnose it.
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 Infantile Hypertrophic Pyloric Stenosis comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Infantile Hypertrophic Pyloric Stenosis. MyGeneLog™. https://www.mygenelog.com/conditions/infantile-hypertrophic-pyloric-stenosis
In the GWAS Catalog, Infantile Hypertrophic Pyloric Stenosis is filed as "Infantile hypertrophic pyloric stenosis". Rather than define it, this page lists the genome-wide findings: 2 positions from 1 study, each with its study's sample and citation.
Genome-wide studies have reported 2 associated positions; the largest study behind this page recorded 1,395 cases and 4,438 controls. 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 2 genes: LINC02006, BARX1. A mapped gene is the catalogue's location for a position, not a mechanism.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Infantile Hypertrophic Pyloric Stenosis from a genotype; a clinician diagnoses it.
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