Pharyngeal Disease, as genome-wide studies have reported it: 4 positions from 1 study, the largest recording 33,157 cases and 199,208 controls. Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
Pharyngeal Disease — filed in the GWAS Catalog as "Pharyngeal disease" — 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 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.
Saarentaus EC et al. 2023, in Nature Communications — Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation. Sample in the catalogue's record: 33,157 cases and 199,208 controls. The 4 positions on this page from it: rs573841223 (TNFRSF13B), rs189411872 (ADAM23), rs4648051 (NFKB1), rs12128267 (LINC01705). PMID:36653354.
The catalogue maps the 4 positions to 4 genes: TNFRSF13B, ADAM23, NFKB1, LINC01705. 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 rs573841223 in TNFRSF13B, reported by Saarentaus EC et al. 2023 at P = 5 × 10-29, with an odds ratio of 1.42.
Read this page as a list of findings about Pharyngeal Disease, 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.
Pharyngeal Disease 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.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Pharyngeal Disease comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Pharyngeal Disease. MyGeneLog™. https://www.mygenelog.com/conditions/pharyngeal-disease
Pharyngeal Disease is the condition the GWAS Catalog files under "Pharyngeal disease". This page does not define it in its own words; it lists what genome-wide studies have reported: 4 positions from 1 study, with each study's sample and citation.
Genes play a part: 4 positions have been linked to it, the largest study recording 33,157 cases and 199,208 controls. 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 4 genes: TNFRSF13B, ADAM23, NFKB1, LINC01705. 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 Pharyngeal 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.