rs10757278 - CDKN2B-AS1: heart disease link
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Key takeaways
- Myocardial infarction association reported effect size 1.28 p=1e-20 in about 8 thousand individuals
- Coronary artery disease association reported effect size 0.069 p=6e-6 in about 56 thousand individuals
- Other aneurysm association reported effect size 0.13 p=3e-42 in about 618 thousand individuals
Key takeaways
- Myocardial infarction association reported effect size 1.28 p=1e-20 in about 8 thousand individuals
- Coronary artery disease association reported effect size 0.069 p=6e-6 in about 56 thousand individuals
- Other aneurysm association reported effect size 0.13 p=3e-42 in about 618 thousand individuals
What the research says This variant is associated with myocardial infarction PMID 17478679. It also shows a modest association with coronary artery disease PMID 35915156. A third study links it to other aneurysms PMID 39024449.
Reported associations
- Myocardial infarction: the variant increases risk with effect size 1.28 p=1e-20 in about 8 thousand individuals [PMID 17478679].
- Coronary artery disease: the variant is modestly associated with effect size 0.069 p=6e-6 in about 56 thousand individuals [PMID 35915156].
- Other aneurysm: the variant shows a strong association with effect size 0.13 p=3e-42 in about 618 thousand individuals [PMID 39024449].
Evidence quality The supplied studies each report a distinct trait association with this variant using GWAS Catalog data. Sample sizes range from 8 thousand to 618 thousand individuals and p-values are highly significant across the board. There is no reported conflicting finding for rs10757278.
Tissue- specific expression effects
- CDKN2B: reduced expression muscle_skeletal GTEx Portal.
Last lifestyle considerations on file for this variant.
Frequently asked questions
What does rs10757278 mean?
It is a genetic variant at the CDKN2B-AS1 locus that has been linked to heart disease and other aneurysms based on GWAS studies.
Is this variant harmful?
The evidence shows strong associations with certain conditions but it does not cause disease by itself; risk depends on many factors.
Can I test for rs10757278?
Yes you can have your DNA analyzed and the variant will be reported if present.