TEX41 variant linked to aortic valve disorder
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Key takeaways
- This variant is linked to nonrheumatic aortic valve disorders with a small effect size
- It also shows modest associations with triglyceride and cholesterol traits
- The variant increases expression in nerve and heart tissue
Key takeaways
- This variant is linked to nonrheumatic aortic valve disorders with a small effect size of 0.097 and p=4e-21 in about 617 thousand individuals.
- It also shows modest associations with triglyceride levels and cholesterol markers each with an effect size around 0.01 and high significance.
- The variant increases expression of the gene in nerve tissue and heart tissue.
What the research says This variant is associated with nonrheumatic aortic valve disorders [39024449] It also shows modest associations with triglyceride levels and cholesterol markers each with an effect size around 0.01 and high significance [41044249]
Reported associations
- Nonrheumatic aortic valve disorders: the variant is associated with a small increase in risk allele A with an effect size of 0.097 p=4e-21 in about 617 thousand individuals [39024449]
- Triglyceride levels: the variant is associated with higher triglyceride levels in chylomicrons and extremely large VLDL with an effect size of 0.01 p=5e-13 in about 450 thousand individuals [41044249]
- Cholesteryl esters to total lipids: the variant is associated with lower cholesterol ester to total lipid ratio with an effect size of 0.01 p=9e-13 in about 450 thousand individuals [41044249]
Evidence quality The supplied studies do not report a direct trait association for this variant; the rsid appears via GWAS Catalog association [39024449] and [41044249]. The evidence is strong with large sample sizes and low p-values but limited to cardiovascular lipid traits.
Tissue-specific expression effects
- ENSG00000299009: increased expression in nerve_tibial and heart_atrial_appendage 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.
Bloodwork
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Fasting triglyceride levels Moderate
Genetic variant associated with elevated triglyceride levels in large VLDL particles
Annual fasting lipid panel including particle size assessment
Screening
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Baseline echocardiography for aortic valve disease High
Genetic variant strongly associated with nonrheumatic aortic valve disorders in large population study
Discuss with cardiologist about screening echocardiography
Frequently asked questions
What does the TEX41 SNP do?
The TEX41 SNP is associated with nonrheumatic aortic valve disorders and has small effects on triglyceride levels. It also raises gene expression in nerve and heart tissue.
Is rs10192407 linked to heart disease?
No, the variant does not show any association with heart disease based on the provided studies.
Can this SNP affect cholesterol?
Yes, it is modestly associated with triglyceride and cholesterol markers but the effect sizes are small.