Gastroesophageal Reflux Disease, as genome-wide studies have reported it: 7 positions from 2 studies, the largest recording 129,080 cases and 473,524 controls (European ancestry). Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
Genome-wide studies have so far placed 7 positions on Gastroesophageal Reflux Disease, from 2 studies; the GWAS Catalog files the condition as "Gastroesophageal reflux disease". 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.
Ong JS et al. 2022, in Gut — Multitrait genetic association analysis identifies 50 new risk loci for gastro-oesophageal reflux, seven new loci for Barrett's oesophagus and provides insights into clinical heterogeneity in reflux diagnosis. Studied in 129,080 cases and 473,524 controls (European ancestry). The 4 positions on this page from it: rs9372625 (near MIR2113), rs2145318 (HCG11), rs1431196 (DCC), rs2106353 (GRM8). PMID:34187846.
An J et al. 2019, in Nature Communications — Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases. Sample in the catalogue's record: 80,265 cases and 305,011 controls (European ancestry). From it, 3 positions on this page: rs4676893 (FOXP1), rs10940767 (AK098570), rs7282609 (OLIG2). PMID:31527586.
The 7 positions sit in or beside 7 genes: MIR2113, HCG11, DCC, GRM8, FOXP1, AK098570, OLIG2. 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.
The strongest association in the records is rs9372625 near MIR2113, reported by Ong JS et al. 2022 at P = 3 × 10-14.
Association records say which positions differ, on average, between people with Gastroesophageal Reflux Disease 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.
Nothing on this page diagnoses Gastroesophageal Reflux Disease. The 7 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 Gastroesophageal Reflux Disease comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Gastroesophageal Reflux Disease. MyGeneLog™. https://www.mygenelog.com/conditions/gastroesophageal-reflux-disease
In the GWAS Catalog, Gastroesophageal Reflux Disease is filed as "Gastroesophageal reflux disease". Rather than define it, this page lists the genome-wide findings: 7 positions from 2 studies, each with its study's sample and citation.
Genome-wide studies have reported 7 associated positions; the largest study behind this page recorded 129,080 cases and 473,524 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 7 genes: MIR2113, HCG11, DCC, GRM8, FOXP1, AK098570, OLIG2. 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 Gastroesophageal Reflux Disease 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.