A functional strategy to characterize expression Quantitative Trait Loci
| Autor: | Marika Catapano, Ivan Molineris, Mattia Forneris, Paolo Provero, Elena Grassi, Federico Marotta, Elisa Mariella |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Transcription Genetic Quantitative Trait Loci Genome-wide association study Genomics Computational biology Regulatory Sequences Nucleic Acid Quantitative trait locus Biology Polymorphism Single Nucleotide Genome 03 medical and health sciences Genetic Humans Gene Expression Regulation Genome-Wide Association Study Genetics Genetics (clinical) Polymorphism Genetic association Nucleic Acid Single Nucleotide Genetic architecture Human genetics 030104 developmental biology Expression quantitative trait loci Regulatory Sequences Transcription |
| Zdroj: | Human Genetics. 136:1477-1487 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s00439-017-1849-9 |
| Popis: | The study of genetic variation has been revolutionized by the advent of high-throughput technologies able to determine the complete genomic sequence of thousands of individuals. Understanding the functional relevance of variants is, however, still a difficult task, especially when focusing on non-coding variants. Most of the variants associated with disease by Genome-Wide Association Studies (GWAS) are indeed non-coding, and presumably exert their effects by altering gene regulation. Expression Quantitative Trait Loci (eQTL) studies represent an important step in understanding the functional relevance of regulatory variants. We propose a new strategy to detect and characterize eQTLs, based on the effect of variants on the Total Binding Affinity (TBA) profiles of regulatory regions. Using a large dataset of coupled genome and expression data, we show that TBA-based inference allows the identification of eQTLs not revealed by traditional methods and helps in their interpretation in terms of altered transcription factor binding. |
| Databáze: | OpenAIRE |
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