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Conditional eQTL analysis reveals allelic heterogeneity of gene expression.

Jansen, Rick; Hottenga, Jouke-Jan; Nivard, Michel G; Abdellaoui, Abdel; Laport, Bram; de Geus, Eco J; Wright, Fred A; Penninx, Brenda W J H; Boomsma, Dorret I.
Hum Mol Genet; 26(8): 1444-1451, 2017 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-28165122
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//, which can be used to lookup eQTLs more accurately than in standard unconditional whole blood eQTL databases.
Selo DaSilva