eQTL = Expression quantitative trait loci (eQTLs) are genomic loci that contribute to variation in expression levels of mRNAs.
In other words, a SNP regulating RNA expression level of a gene.
Is there any experimental evidence that the association can be validated? (e.g., introduce a SNP in a wild-type cell line)
Either cis- or trans-eQTLs are fine.
Are these studies limited to statistical association level?
Thanks!
Some eQTLs may be validated in wet-lab others not. The huge difference between cell cultures and whole organisms may lead to failure in validation. A great resource for eQTLs is the gtexportal.org but I am not aware of any studies that systematically have validated clinical eQTLs in wet-lab.
Yes you can validate the molecular aspects of your cis-eQTLs as I have done for two. One has been already published and another we are about to submit.Article A functional SNP associated with atopic dermatitis controls ...
is challenging but possible. It would be possible that eQTLs data derived from primary cells not be reproduced in cell lines due to dis regulated pathways in cell lines in comparison to primary.- Badges
- Science topic
- Similar topics
- Biological Science
- Molecular Cell Biology
- Culture Cells
- Cell Line