Conditional eQTL analysis reveals allelic heterogeneity of gene expression.

Autor: Jansen R; Department of Psychiatry, Vrije Universiteit Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Hottenga JJ; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Public Health, Amsterdam, The Netherlands., Nivard MG; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Public Health, Amsterdam, The Netherlands., Abdellaoui A; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Public Health, Amsterdam, The Netherlands., Laport B; Department of Psychiatry, Vrije Universiteit Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., de Geus EJ; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Public Health, Amsterdam, The Netherlands., Wright FA; Departments of Statistics and Biological Sciences, Bioinformatics Research Center, North Carolina State University, NC, USA., Penninx BWJH; Department of Psychiatry, Vrije Universiteit Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Boomsma DI; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Public Health, Amsterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Human molecular genetics [Hum Mol Genet] 2017 Apr 15; Vol. 26 (8), pp. 1444-1451.
DOI: 10.1093/hmg/ddx043
Abstrakt: 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.
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Databáze: MEDLINE