Characterization of expression quantitative trait loci in extensively phenotyped pedigrees ascertained for bipolar disorder [article]

Christine Peterson, Susan Service, Anna Jasinska, Fuying Gao, Ivette Zelaya, Terri Teshiba, Carrie Bearden, Victor Reus, Gabriel Macaya, Carlos López-Jaramillo, Marina Bogomolov, Yoav Benjamini (+4 others)
2015 bioRxiv   pre-print
The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene expression an important tool in genetic mapping studies of such traits. As part of a study to identify genetic loci contributing to bipolar disorder and a wide range of BP-related quantitative traits in members of 26 pedigrees from Costa Rica and Colombia, we measured gene
more » ... in lymphoblastoid cell lines derived from 786 pedigree members. The study design enabled us to comprehensively reconstruct the genetic regulatory network in these families, provide estimates of heritability, identify eQTL, evaluate missing heritability for the eQTL, and quantify the number of different alleles contributing to any given locus.
doi:10.1101/031427 fatcat:psqdxsyfknegneotzpjkaq7glq