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Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation Boel Brynedal, JinMyung Choi, Towfique Raj, Robert Bjornson, Barbara E. Stranger, Benjamin M. Neale, Benjamin F. Voight, Chris Cotsapas The American Journal of Human Genetics Volume 100, Issue 4, Pages (April 2017) DOI: /j.ajhg Copyright © 2017 American Society of Human Genetics Terms and Conditions
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Figure 1 Hundreds of Putative trans-eQTLs across the Genome Affect the Same Genes in the Same Direction across Three African HapMap Populations We considered all autosomal variants with nominal evidence of association to multiple transcript levels (pcpma < 0.05). We find that the targets of these trans-eQTLs overlap significantly in the three populations (empirical assessment of trans-eQTL target overlaps between YRI and LWK [A], YRI and MKK [B], and LWK and MKK [C]). We also find that trans-eQTL allelic effects are consistently in the same direction across the three populations (empirical assessment of trans-eQTL sign tests between YRI and LWK [D], YRI and MKK [E], and LWK and MKK [F]). These bulk results indicate that trans-eQTLs affect the expression of the same target genes, in the same direction, across populations. The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions
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Figure 2 A trans-eQTL at rs on Chromosome 6 Affects the Expression Levels of Many Genes across Three African HapMap Populations (A) Meta-analysis p values for 9,085 transcript eQTLs at rs (B) Effect directions are consistent across the three populations. In each population (x axis), we select SNPs where the minor allele increases (left) and decreases (right) expression and show the direction of effect in the other two populations as violin plots (trans-eQTL effect size, beta, on the y axis). The overwhelming majority of effects are consistent across all three populations. (C) The target genes of the rs trans-eQTL form a large subnetwork, which is enriched for multiple Gene Ontology biological processes. Here, we show the interplay between the top two enriched terms: GO: (regulation of mitotic nuclear division) and GO: (organonitrogen compound metabolic process). The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions
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Figure 3 A trans-eQTL at rs on Chromosome 15 Affects the Expression Levels of Many Genes across Three African HapMap Populations (A) Meta-analysis p values for 9,085 transcript eQTLs at rs (B) Effect directions are consistent across the three populations. In each population (x axis), we select SNPs where the minor allele increases (left) and decreases (right) expression and show the direction of effect in the other two populations as violin plots (trans-eQTL effect size, beta, on the y axis). The overwhelming majority of effects are consistent across all three populations. (C) The target genes of the rs trans-eQTL form a large subnetwork, which is enriched for multiple Gene Ontology biological processes. Here, we show the term GO: (heterocycle metabolic process). The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions
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