Standard

Calcific aortic valve stenosis

near RNA5SP52 · rs2077522

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.

What the study found

Who was studied 14,819 European ancestry cases, 941,863 European ancestry controls.

The effect The reported allele is C; the catalogue records no effect size ; p = 3 × 10⁻¹⁰.

Where it sits Chromosome 1, band 1p22.3 — between genes, 1.2 kb from RNA5SP52.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Calcific aortic valve stenosis compared to the general population.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Calcific aortic valve stenosis.

T/T Published research associates this genotype with typical/baseline likelihood of Calcific aortic valve stenosis — no copies of the reported risk allele.

Source

Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation

Thériault S, Li Z, Abner E, Luan J, Manikpurage HD, Houessou U, Zamani P, Briend M, Boudreau DK, Gaudreault N, Frenette L, Argaud D

and 10 more — show all

Dahmene M, Dagenais F, Clavel MA, Pibarot P, Arsenault BJ, Boekholdt SM, Wareham NJ, Esko T, Mathieu P, Bossé Y

Estonian Biobank Research Team

Nature communications · 2024 · PMID 38494474 · open access

Questions about rs2077522

What is rs2077522?

rs2077522 is a single position in the genome, in or near the near RNA5SP52 gene. Published research associates it with calcific aortic valve stenosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2077522 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 rs2077522 come from?

GWAS Catalog, Nature communications 2024, PMID:38494474. 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.

Calcific aortic valve stenosis (rs2077522). MyGeneLog™. https://www.mygenelog.com/variants/rs2077522

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