School of Medicine Publications and Presentations
Document Type
Article
Publication Date
12-2015
Abstract
Type 2 diabetes (T2D) is a common,multifactorial disease that is influenced by genetic and environmental factors and their interactions. However, common variants identified by genome wide association studies (GWAS) explain only about 10% of the total trait variance for T2D and less than 5% of the variance for obesity, indicating that a large proportion of heritability is still unexplained. The transcriptomic approach described here uses quantitative gene expression and disease-related physiological data (deep phenotyping) to measure the direct correlation between the expression of specific genes and physiological traits. Transcriptomic analysis bridges the gulf between GWAS and physiological studies. Recent GWAS studies have utilized very large population samples, numbering in the tens of thousands (or even hundreds of thousands) of individuals, yet establishing causal functional relationships between strongly associated genetic variants and disease remains elusive. In light of the findings described below, it is appropriate to consider how and why transcriptomic approaches in small samples might be capable of identifying complex disease-related genes which are not apparent using GWAS in large samples.
Recommended Citation
Jenkinson, C. P., Göring, H. H. H., Arya, R., Blangero, J., Duggirala, R., & DeFronzo, R. A. (2016). Transcriptomics in type 2 diabetes: Bridging the gap between genotype and phenotype. Genomics Data, 8, 25–36. https://doi.org/10.1016/j.gdata.2015.12.001
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Publication Title
Genomics Data
DOI
10.1016/j.gdata.2015.12.001
Academic Level
faculty
Mentor/PI Department
Office of Human Genetics
Comments
© 2015 Published by Elsevier Inc.