Genetic Analysis of PI3K/AKT/mTOR Phosphorylation
Author Information
Author(s): Hutz Janna E., Manning W. Aaron, Province Michael A., McLeod Howard L.
Primary Institution: Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina at Chapel Hill
Hypothesis
Is the activation of the PI3K/AKT/mTOR signaling pathway influenced by genetic factors?
Conclusion
The study found significant genetic influences on the phosphorylation of key proteins in the PI3K/AKT/mTOR pathway.
Supporting Evidence
- Significant associations were found between SNPs in HSP90AA1 and the AKT1 phosphorylation ratio.
- Linkage analysis suggested several loci of interest for the phosphorylation ratios of AKT1 and p70S6K.
- Moderate heritability was observed for the phosphorylated:total protein ratios of AKT1 and p70S6K.
Takeaway
Scientists looked at how genes affect certain proteins that help cells communicate, especially in diseases like cancer.
Methodology
The study used ELISA to measure protein levels in lymphoblastoid cell lines and conducted genetic analyses to identify associations.
Potential Biases
Potential biases may arise from using cell lines transformed by EBV, which could affect the results.
Limitations
The study's sample size was relatively small, which may limit the statistical power of the findings.
Participant Demographics
The study involved lymphoblastoid cell lines from 14 families.
Statistical Information
P-Value
0.0036
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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