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Duodenal ulcer

CBFA2T3 · rs511893

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

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.

How common each version is

GT

Korean KRGDB

G 25.3% · T 74.7%

Korean Korea4K

G 25.2% · T 74.8%

Korean Korea1K

G 25.9% · T 74.1%

Japanese ToMMo

G 31.5% · T 68.5%

World gnomAD

G 46.1% · T 53.9%

World 1000 Genomes

G 41.8% · T 58.2%

World TOPMed

G 47.2% · T 52.8%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

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

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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