Expressive

rs10757274 - CDKN2B-AS1: CAD risk and AAA link

Key takeaways

  • rs10757274 is a risk variant for coronary artery disease, it may also be linked to abdominal aortic aneurysm, expression of CDKN2B decreases in muscle and colon tissue, genotype AA or AG reduces risk of NSAID toxicity.
  • The meta-analysis identified rs10757274 as a AAA risk locus [PMID 27899403].
  • A Chinese GWAS linked it to CAD with effect size 0.12 p=1.26e-11 [PMID 22751097].
  • Genotypes AA or AG lower risk of NSAID toxicity [PMID 20538124].

Key takeaways rs10757274 is a risk variant for coronary artery disease, it may also be linked to abdominal aortic aneurysm, expression of CDKN2B decreases in muscle and colon tissue, genotype AA or AG reduces risk of NSAID toxicity.

What the research says a meta-analysis of genome-wide association studies identified rs10757274 as a risk locus for abdominal aortic aneurysm [PMID 27899403]. A Chinese GWAS found it associated with coronary artery disease [PMID 22751097]. The variant is linked to reduced expression of CDKN2B in muscle and colon tissue.

Reported associations Coronary artery disease: the variant is associated with increased risk, reported effect size 0.12 p=1.26e-11 [PMID 22751097]. Abdominal aortic aneurysm: the variant is a risk locus for AAA [PMID 27899403].

Evidence quality the meta-analysis used 4972 cases and 99,858 controls with p-values below 5e-6; replication confirmed findings in validation cohorts of 10,204 cases and 107,766 controls [PMID 27899403]. The Chinese GWAS used 1,515 cases and 5,019 controls with genome-wide significance p<5e-8 [PMID 22751097].

Drug response and pharmacogenomics genotypes AA or AG are associated with decreased likelihood of acute coronary syndrome when exposed to antiinflammatory agents non-steroids [PMID 20538124].

Tissue-specific expression effects

  • CDKN2B: reduced expression in colon, muscle, skeletal tissues GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • cardiovascular risk management strategy High

    CDKN2B-AS1 variants affect inflammation and lipid metabolism pathways implicated in atherosclerosis and aneurysm formation

Screening

  • abdominal aortic aneurysm screening High

    CDKN2B-AS1 risk allele increases AAA risk 1.24-fold; early detection prevents rupture and mortality

  • cardiovascular screening for coronary artery disease High

    rs10757274 risk allele increases CAD risk 1.37-fold; earlier or more frequent screening detects disease for intervention

Frequently asked questions

Is rs10757274 linked to coronary artery disease?

Yes it is associated with increased risk based on a Chinese GWAS.

Does rs10757274 affect NSAID safety?

Genotypes AA or AG are linked to lower risk of acute coronary syndrome when taking antiinflammatory agents.

Is CDKN2B expression changed by this variant?

The variant is associated with reduced expression in muscle and colon tissue according to GTEx data.