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Duodenal ulcer

CBFA2T3 · rs511893

Where this position leads

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁸, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 11,964 Japanese ancestry cases, 240,675 Japanese ancestry controls, 5,153 European ancestry cases, 626,533 European ancestry controls.

The effect Each copy of the G allele shifted the measure 0.092 lower (95% confidence interval 0.061-0.123); p = 6 × 10⁻⁹.

How common The G allele had a frequency of about 31% in the people studied.

Where it sits Chromosome 16, band 16q24.3 — in an intron of CBFA2T3.

What each result means

G/G Two copies of the version the research linked to Duodenal ulcer. That is the strongest link of the three results. A link in a study is not a diagnosis.

G/T One copy of the version the research linked to Duodenal ulcer. That is a smaller link than two copies.

T/T No copy of the version the research linked to Duodenal ulcer. This is the starting point the study compared everyone against.

Source

East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease

He Y, Koido M, Sutoh Y, Shi M, Otsuka-Yamasaki Y, Munter HM, Morisaki T, Nagai A, Murakami Y, Tanikawa C, Hachiya T, Matsuda K

and 2 more — show all

Shimizu A, Kamatani Y

BioBank Japan

Nature genetics · 2023 · PMID 38036781 · open access

Questions about rs511893

What is rs511893?

rs511893 is a single position in the genome, in or near the CBFA2T3 gene. Published research associates it with duodenal ulcer. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs511893 linked to?

On MyGeneLog this position is linked to Duodenal Ulcer. The research behind each link, and its sources, are set out on that condition page.

Does having rs511893 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs511893 come from?

GWAS Catalog, Nature genetics 2023, PMID:38036781. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Duodenal ulcer (rs511893). MyGeneLog™. https://www.mygenelog.com/variants/rs511893

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