Work

Measuring cis-acting regulatory variants genome-wide: new insights into expression genetics and disease susceptibility

Year: 2009

Type: article

Abstract: Regulatory polymorphisms have emerged as a prevalent source of phenotypic variability, capable of driving rapid evolution. mRNA profiling combined with genome-wide genotyping of polymorphisms has revealed pervasive genetic influences on gene expression, acting both in cis and in trans . Measuring allelic ratios of RNA transcripts makes it possible to focus on cis -acting factors separately from trans -acting processes. Using large-scale allelic expression analysis, a recent study by Ge and colleagues demonstrates a high incidence of cis -acting regulatory variants, promising insights into the 'missing heritability' component of complex disorders. Here, I evaluate their results and discuss the limitations of the current approach and avenues for exploring disease risk, guiding successful therapy, early intervention, and prevention.

Source: Genome Medicine

DOI: 10.1186/gm116

Author: Wolfgang Sadee

Institution: The Ohio State University

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: $5,290