Fast eQTL Analysis for Twin Studies

摘要

The availability of high throughput genotyping technologies has lead to many successful genome-wide association (GWA) studies in mapping genes of complex traits such as mental disorders like depression and schizophrenia. However, most of the genetic variants detected by GWA studies can only explain a small fraction of the heritability associated with these traits. Furthermore, the functional and regulatory consequences of the detected genetic variants are not clear, making the identification of causal genetic variants challenging. To gain insight into the possible regulatory role of single nucleotide polymorphisms (SNPs), it is popular to perform genetic mapping of expression quantitative trait loci (eQTLs) where gene expression of each transcript is treated as a complex trait whose association with SNPs is assessed. The integrated analysis of SNP and expression data could identify novel genetic pathways involved in complex traits. Many eQTL analyses on human data have revealed novel functional effects of thousands of single nucleotide polymorphisms (SNPs) and have uncovered novel genetic pathways involved in phenotypic variation.