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Hum Mol Genet. 2017 Apr 15;26(8):1444-1451. doi: 10.1093/hmg/ddx043.

Conditional eQTL analysis reveals allelic heterogeneity of gene expression.

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Department of Psychiatry, Vrije Universiteit Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Public Health, Amsterdam, The Netherlands.
Departments of Statistics and Biological Sciences, Bioinformatics Research Center, North Carolina State University, NC, USA.


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 (, which can be used to lookup eQTLs more accurately than in standard unconditional whole blood eQTL databases.

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