Association of genetic variations and gene expression in a family-based study

[摘要] BackgroundExpression quantitative trait locus (eQTL) maps are considered a valuable resource in studying complex diseases. The availability of gene expression data from the Genetic Analysis Workshop 19 (GAW19) provides a great opportunity to investigate the association of gene expression with genetic variants in blood.MethodsA total of 267 samples with gene expression and whole genome sequencing data were employed in this study. We used linear mixed models with genetic random effects along with a permutation procedure to create an eQTL map. The eQTL map was further tested in terms of functional implication, including the enrichment in disease-related variants and in regulatory regions.ResultsWe identified 22,869 significant eQTLs from the GAW19 data set. These eQTLs were highly enriched with genetic loci associated with blood pressure and DNase hypersensitive regions. In addition, the majority of genes associated with eQTLs showed moderate to high heritability (h2 > 0.4).ConclusionsWe successfully created an eQTL map from the GAW19 data set. Our study indicated that the eQTLs were enriched within regulatory regions, and tended to have relatively high heritability.

[发布日期] 2016-10-18

[关键词] Whole Genome Sequencing;High Heritability;Genetic Analysis Workshop;Expression Quantitative Trait Locus;Blood Pressure Medication