Identifying Genetic Factors That Control Gene Expression in Humans
Author Information
Author(s): Hu Pingzhao, Lan Hui, Xu Wei, Beyene Joseph, Greenwood Celia MT
Primary Institution: The Hospital for Sick Children Research Institute
Hypothesis
We propose a new approach to identify cis- and trans-acting loci that regulate gene expression.
Conclusion
The study identified many expression phenotypes influenced by cis- and trans-acting loci, with significant evidence of association and linkage.
Supporting Evidence
- 2176 out of 3462 expression phenotypes had at least one cis-SNP.
- 930 of 3034 phenotypes were significantly associated with one marker at p ≤ 0.01.
- 1556 phenotypes showed evidence for linkage beyond the defined thresholds.
Takeaway
Scientists looked at how genes are turned on and off in people and found that many different tiny changes in DNA can affect this process.
Methodology
The study used stepwise regression analysis and linkage analysis on gene expression measurements from lymphoblastoid cell lines.
Potential Biases
Potential bias due to ignoring familial clustering in the analysis.
Limitations
The sample size was small, and the analysis did not account for familial dependence.
Participant Demographics
194 members of 14 CEPH Utah families.
Statistical Information
P-Value
p = 0.01
Statistical Significance
p<0.01
Want to read the original?
Access the complete publication on the publisher's website