Sep 4, 2014

Cross-population Meta-analysis of eQTLs: Fine Mapping and Functional Study

bioRxiv
Xiaoquan WenRoger Pique-Regi

Abstract

Mapping expression quantitative trait loci (eQTLs) has been shown as a powerful tool to uncover the genetic underpinnings of many complex traits at the molecular level. In this paper, we present an integrative analysis approach that leverages eQTL data collected from multiple population groups. In particular, our approach effectively identifies multiple independent cis -eQTL signals that are consistently presented across populations, accounting for population heterogeneity in allele frequencies and linkage disequilibrium patterns. Furthermore, by integrating genomic annotations, our analysis framework enables high-resolution functional analysis of eQTLs. We applied our statistical approach to analyze the GEUVADIS data consisting of samples from five population groups. From this analysis, we concluded that i) jointly analysis across population groups greatly improves the power of eQTL discovery and the resolution of fine mapping of causal eQTL. ii) many genes harbor multiple independent eQTLs in their cis regions iii) genetic variants that disrupt transcription factor binding are significantly enriched in eQTLs ( p -value = 4.93 × 10−22). Author Summary Expression quantitative trait loci (eQTLs) are genetic variants associated ...Continue Reading

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Mentioned in this Paper

Study
Quantitative Trait Loci
Patterns
Meta Analysis (Statistical Procedure)
Genes
Dysequilibrium Syndrome
Gene Expression
Transcription Factor Binding
Binding (Molecular Function)
Gene Annotation

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