Work

The Importance of Context: Uncovering Species- and Tissue-Specific Effects of Genetic Risk Variants for Type 2 Diabetes

Year: 2016

Type: article

Abstract: Genome-wide association studies (GWAS) have been highly successful in identifying genetic variation associated with type 2 diabetes (T2D) risk and related quantitative traits (1–3). The vast majority of association signals are located in non-coding regions of the genome, influencing nearby genes through regulation of transcriptional, translational, or splicing activity (4). Due to the highly context-dependent nature of gene expression, the effects of many risk variants are restricted to specific cell types and produce more subtle effects than those observed in organism-wide (or “global”) knockouts. In addition, identification of the underlying causal genes and target tissues is often a major challenge, hindering translation into disease mechanisms. Recent studies have shown that the intersection of genetic data and genomic annotations can be used to produce a cellular atlas with which to understand the phenotypes of GWAS signals. Through the generation of directed hypotheses, this integrated framework has the potential to bridge the gap between association signals and disease biology.

Source: Frontiers in Endocrinology

DOI: 10.3389/fendo.2016.00112

Authors: Soren K. Thomsen, Mark I. McCarthy, Anna L. Gloyn

Institutions: University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Centre for Human Genetics, Churchill Hospital

Language: English

Topic: Genetic Associations and Epidemiology

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801