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Ascending aorta distensibility (MTAG)

CBFA2T3 · rs28375406

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 = 10⁻⁷, 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 29,895 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.03 lower; p = 4 × 10⁻⁸.

How common The A allele had a frequency of about 63% in the people studied.

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

What each result means

A/A Two copies of the version the research linked to Ascending aorta distensibility (MTAG). That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Ascending aorta distensibility (MTAG). That is a smaller link than two copies.

G/G No copy of the version the research linked to Ascending aorta distensibility (MTAG). This is the starting point the study compared everyone against.

Source

Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities

Francis CM, Futschik ME, Huang J, Bai W, Sargurupremraj M, Teumer A, Breteler MMB, Petretto E, Ho ASR, Amouyel P, Engelter ST, Bülow R

and 11 more — show all

Völker U, Völzke H, Dörr M, Imtiaz MA, Aziz NA, Lohner V, Ware JS, Debette S, Elliott P, Dehghan A, Matthews PM

Nature communications · 2022 · PMID 35922433 · open access

Questions about rs28375406

What is rs28375406?

rs28375406 is a single position in the genome, in or near the CBFA2T3 gene. Published research associates it with ascending aorta distensibility (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs28375406 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 rs28375406 come from?

GWAS Catalog, Nature communications 2022, PMID:35922433. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Ascending aorta distensibility (MTAG) (rs28375406). MyGeneLog™. https://www.mygenelog.com/variants/rs28375406

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