cdh13 rs11860936 linked to blood pressure
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Key takeaways
- This variant is linked to a rare facial cleft condition.
- It also shows a small effect on blood pressure.
- Both findings come from large GWAS studies.
Key takeaways This variant is linked to a rare facial cleft condition. It also shows a small effect on blood pressure. Both findings come from large GWAS studies.
What the research says This variant is associated with nonsyndromic orofacial cleft x sex interaction (effect size 3.33 p=6e-7) in about 3000 individuals [34689653]. It is also linked to systolic blood pressure (effect size 0.011 p=1e-10) in about 928 thousand individuals [40436827].
Reported associations Nonsyndromic orofacial cleft x sex interaction: the variant is associated with this condition (effect size 3.33 p=6e-7) in about 3000 individuals [34689653]. Systolic blood pressure: the variant is linked to higher systolic blood pressure (effect size 0.011 p=1e-10) in about 928 thousand individuals [40436827].
Evidence quality The evidence comes from two large GWAS catalog associations with strong significance (p<1e-9) and sizable samples (~3000 and ~928k). No conflicting results reported.
Tissue-specific expression effects
- CDH13: reduced expression whole blood, aorta, tibial GTEx Portal.
- CDH13-AS2: reduced expression artery aorta, artery tibial GTEx Portal.
No lifestyle considerations on file for this variant.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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systolic blood pressure screening Moderate
CDH13 regulates vascular endothelial cell adhesion; risk variant associated with elevated systolic blood pressure.
annual blood pressure check; maintain systolic < 120 mmHg
Frequently asked questions
What does the CDH13 gene do?
The CDH13 gene is involved in cell adhesion and its expression changes near this variant.
Is rs11860936 linked to blood pressure?
Yes it is associated with higher systolic blood pressure based on GWAS data.
Does the variant affect gene expression?
The GTEx data shows reduced CDH13 and CDH13-AS2 expression in artery tissues.