rs10757272 - CDKN2B-AS1: aneurysm risk
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Key takeaways
- This variant is linked to a modest increase in risk of intracranial aneurysm with an odds ratio of 1.21 and p=1.55e-7
- It may reduce expression of the CDKN2B gene in muscle tissue
- The association is based on a genome-wide association study in Japanese individuals
Key takeaways
- This variant is linked to a modest increase in risk of intracranial aneurysm with an odds ratio of 1.21 and p=1.55e-7 [22286173]
- It may reduce expression of the CDKN2B gene in muscle tissue GTEx Portal
- The association is based on a genome-wide association study in Japanese individuals
What the research says The variant rs10757272 near CDKN2BAS at chromosome 9p21.3 was validated in a Japanese GWAS for intracranial aneurysm and shows an odds ratio of 1.21 with p=1.55e-7 [22286173] The functional variant rs6842241 near EDNRA also influences vessel stress but is separate from this CDKN2B-related signal.
Reported associations
- Intracranial aneurysm: the variant increases risk with an odds ratio of 1.21 and p=1.55e-7 [22286173]
- Muscle expression: reduced expression in muscle tissue GTEx Portal
Evidence quality The GWAS includes 1383 cases and 5484 controls with a combined p-value of 9.58e-9 for rs6842241 near EDNRA and a secondary validation of rs10757272 in CDKN2BAS with p=1.55e-7; the meta-analysis adds further support but the sample size is limited to 1383 cases, so findings are preliminary.
Tissue-specific expression effects
- CDKN2B: reduced expression in muscle tissue 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.
Lifestyle
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regular aerobic exercise for vascular health Moderate
Aerobic exercise is a primary intervention for peripheral artery disease prevention and management; rs10757272 confers increased PAD susceptibility.
Aim for at least 150 minutes per week of moderate-intensity activity like brisk walking, cycling, or swimming
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smoking Moderate
Smoking significantly increases peripheral artery disease risk; the rs10757272 PAD association was identified in a large cohort of ever smokers.
If you currently smoke, discuss evidence-based cessation approaches with your doctor
Screening
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vascular assessment for peripheral artery disease Moderate
rs10757272 is associated with 1.15-fold increased peripheral artery disease risk in a large GWAS (n=639,291); early vascular assessment enables detection and prevention.
Ask your doctor about ankle-brachial index testing or other vascular screening appropriate for your risk profile
Frequently asked questions
What does rs10757272 mean?
rs10757272 is a single nucleotide change near the CDKN2B gene that has been associated with a small increase in risk of intracranial aneurysm.
Is this variant dangerous?
The odds ratio is 1.21 which indicates a modest increase in risk, not a high danger level.
Does it affect muscle tissue?
Yes the GTEx data show reduced expression of CDKN2B in muscle tissue.