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Heart failure with reduced ejection fraction

SMARCB1 · rs2267039

Where this position leads

What the study found

Who was studied 4,254 Japanese ancestry cases, 197,577 Japanese ancestry controls; replicated in 19,495 European ancestry cases, 258,943 European ancestry controls.

The effect Each copy of the T allele shifted the measure 0.156 higher (95% confidence interval 0.11-0.2); p = 9 × 10⁻¹¹.

How common The T allele had a frequency of about 61% in the people studied.

Where it sits Chromosome 22, band 22q11.23 — in an intron of SMARCB1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Heart failure with reduced ejection fraction — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Heart failure with reduced ejection fraction.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Heart failure with reduced ejection fraction compared to the general population.

Source

Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population

Enzan N, Miyazawa K, Koyama S, Kurosawa R, Ieki H, Yoshida H, Takechi F, Fukuyama M, Osako R, Tomizuka K, Liu X, Ozaki K

and 18 more — show all

Onouchi Y, Matsuda K, Momozawa Y, Aburatani H, Kamatani Y, Yamaguchi T, Akazawa H, Node K, Ellinor PT, Levin MG, Damrauer SM, Voight BF, Joseph J, Sun YV, Terao C, Ninomiya T, Komuro I, Ito K

BioBank Japan Project

Nature communications · 2025 · PMID 41184235 · open access

Questions about rs2267039

What is rs2267039?

rs2267039 is a single position in the genome, in or near the SMARCB1 gene. Published research associates it with heart failure with reduced ejection fraction. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2267039 linked to?

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

Does having rs2267039 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 rs2267039 come from?

GWAS Catalog, Nature communications 2025, PMID:41184235. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Heart failure with reduced ejection fraction (rs2267039). MyGeneLog™. https://www.mygenelog.com/variants/rs2267039

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