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Influence of CHIEF pathway genes on gene expression: a pathway approach to functionality
Martha L Slattery1, Abbie Lundgreen1, Lila E Mullany1
1Department of Internal Medicine, University of Utah Health Sciences Center Salt Lake City, UT 84018, USA.
Summary
Genetic variations in specific pathway genes significantly influence gene expression, with some SNPs and genes linked to cancer risk. These findings highlight potential regulatory roles within biological pathways relevant to cancer development.
Area of Science:
- Genetics
- Molecular Biology
- Cancer Research
Background:
- Candidate pathway approaches commonly use tagSNPs to assess genetic variation in disease association studies.
- Investigating gene expression patterns alongside SNPs in the CHIEF pathway can elucidate their functional roles.
Purpose of the Study:
- To assess gene expression patterns in relation to Single Nucleotide Polymorphisms (SNPs) within the CHIEF pathway.
- To determine the functional significance of genetic variations in pathway genes.
Main Methods:
- Quantitative real-time RT-PCR analyzed gene expression in 82 normal colon tissue samples.
- TagSNP genotype data were acquired using an Illumina multiplex bead array.
- General linear models adjusted for age, sex, and genetic ancestry were employed.
Main Results:
- Genetic variations in mTOR, NFKB1, PRKAG2, and TSC2 significantly impacted their gene expression.
- Several significant associations were found between pathway genes and the expression of other genes, notably involving TSC2 rs3087631 with a high differential expression range.
- Many identified SNPs and genes were also associated with colon and rectal cancer risk.
Conclusions:
- Pathway genes appear to regulate the expression of other genes within the same pathway.
- The convergence of these genes in cancer-related biological pathways underscores their significance in the carcinogenic process.
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