@article{12fad16eb1b248628b01ddd15970c10f,
title = "Conditional eQTL analysis reveals allelic heterogeneity of gene expression",
abstract = "In recent years, multiple eQTL (expression quantitative trait loci) catalogs have become available that can help understand the functionality of complex trait-related single nucleotide polymorphisms (SNPs). In eQTL catalogs, gene expression is often strongly associated with multiple SNPs, which may reflect either one or multiple independent associations. Conditional eQTL analysis allows a distinction between dependent and independent eQTLs. We performed conditional eQTL analysis in 4,896 peripheral blood microarray gene expression samples. Our analysis showed that 35% of genes with a cis eQTL have at least two independent cis eQTLs; for several genes up to 13 independent cis eQTLs were identified. Also, 12% (671) of the independent cis eQTLs identified in conditional analyses were not significant in unconditional analyses. The number of GWAS catalog SNPs identified as eQTL in the conditional analyses increases with 24% as compared to unconditional analyses. We provide an online conditional cis eQTL mapping catalog for whole blood (https://eqtl.onderzoek.io/), which can be used to lookup eQTLs more accurately than in standard unconditional whole blood eQTL databases.",
keywords = "Journal Article",
author = "Rick Jansen and Jouke-Jan Hottenga and Nivard, {Michel G} and A. Abdellaoui and Bram Laport and {de Geus}, {Eco J} and Wright, {Fred A} and Penninx, {Brenda W J H} and Boomsma, {Dorret I}",
note = "{\textcopyright} The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email:
[email protected].",
year = "2017",
month = apr,
day = "15",
doi = "10.1093/hmg/ddx043",
language = "English",
volume = "26",
pages = "1444--1451",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "8",
}