<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Kasela, Silva</style></author><author><style face="normal" font="default" size="100%">Ortega, Victor E</style></author><author><style face="normal" font="default" size="100%">Martorella, Molly</style></author><author><style face="normal" font="default" size="100%">Garudadri, Suresh</style></author><author><style face="normal" font="default" size="100%">Nguyen, Jenna</style></author><author><style face="normal" font="default" size="100%">Ampleford, Elizabeth</style></author><author><style face="normal" font="default" size="100%">Pasanen, Anu</style></author><author><style face="normal" font="default" size="100%">Nerella, Srilaxmi</style></author><author><style face="normal" font="default" size="100%">Buschur, Kristina L</style></author><author><style face="normal" font="default" size="100%">Barjaktarevic, Igor Z</style></author><author><style face="normal" font="default" size="100%">Barr, R Graham</style></author><author><style face="normal" font="default" size="100%">Bleecker, Eugene R</style></author><author><style face="normal" font="default" size="100%">Bowler, Russell P</style></author><author><style face="normal" font="default" size="100%">Comellas, Alejandro P</style></author><author><style face="normal" font="default" size="100%">Cooper, Christopher B</style></author><author><style face="normal" font="default" size="100%">Couper, David J</style></author><author><style face="normal" font="default" size="100%">Criner, Gerard J</style></author><author><style face="normal" font="default" size="100%">Curtis, Jeffrey L</style></author><author><style face="normal" font="default" size="100%">Han, MeiLan K</style></author><author><style face="normal" font="default" size="100%">Hansel, Nadia N</style></author><author><style face="normal" font="default" size="100%">Hoffman, Eric A</style></author><author><style face="normal" font="default" size="100%">Kaner, Robert J</style></author><author><style face="normal" font="default" size="100%">Krishnan, Jerry A</style></author><author><style face="normal" font="default" size="100%">Martinez, Fernando J</style></author><author><style face="normal" font="default" size="100%">McDonald, Merry-Lynn N</style></author><author><style face="normal" font="default" size="100%">Meyers, Deborah A</style></author><author><style face="normal" font="default" size="100%">Paine, Robert</style></author><author><style face="normal" font="default" size="100%">Peters, Stephen P</style></author><author><style face="normal" font="default" size="100%">Castro, Mario</style></author><author><style face="normal" font="default" size="100%">Denlinger, Loren C</style></author><author><style face="normal" font="default" size="100%">Erzurum, Serpil C</style></author><author><style face="normal" font="default" size="100%">Fahy, John V</style></author><author><style face="normal" font="default" size="100%">Israel, Elliot</style></author><author><style face="normal" font="default" size="100%">Jarjour, Nizar N</style></author><author><style face="normal" font="default" size="100%">Levy, Bruce D</style></author><author><style face="normal" font="default" size="100%">Li, Xingnan</style></author><author><style face="normal" font="default" size="100%">Moore, Wendy C</style></author><author><style face="normal" font="default" size="100%">Wenzel, Sally E</style></author><author><style face="normal" font="default" size="100%">Zein, Joe</style></author><author><style face="normal" font="default" size="100%">Langelier, Charles</style></author><author><style face="normal" font="default" size="100%">Woodruff, Prescott G</style></author><author><style face="normal" font="default" size="100%">Lappalainen, Tuuli</style></author><author><style face="normal" font="default" size="100%">Christenson, Stephanie A</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">NHLBI SubPopulations and InteRmediate Outcome Measures In COPD Study (SPIROMICS)</style></author><author><style face="normal" font="default" size="100%">NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium.</style></title><secondary-title><style face="normal" font="default" size="100%">Genome Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Genome Med</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged, 80 and over</style></keyword><keyword><style  face="normal" font="default" size="100%">Angiotensin-Converting Enzyme 2</style></keyword><keyword><style  face="normal" font="default" size="100%">Asthma</style></keyword><keyword><style  face="normal" font="default" size="100%">Bronchi</style></keyword><keyword><style  face="normal" font="default" size="100%">Cardiovascular Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">COVID-19</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Obesity</style></keyword><keyword><style  face="normal" font="default" size="100%">Pulmonary Disease, Chronic Obstructive</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Respiratory Mucosa</style></keyword><keyword><style  face="normal" font="default" size="100%">Risk Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">SARS-CoV-2</style></keyword><keyword><style  face="normal" font="default" size="100%">Smoking</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2021</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2021 04 21</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">13</style></volume><pages><style face="normal" font="default" size="100%">66</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;The large airway epithelial barrier provides one of the first lines of defense against respiratory viruses, including SARS-CoV-2 that causes COVID-19. Substantial inter-individual variability in individual disease courses is hypothesized to be partially mediated by the differential regulation of the genes that interact with the SARS-CoV-2 virus or are involved in the subsequent host response. Here, we comprehensively investigated non-genetic and genetic factors influencing COVID-19-relevant bronchial epithelial gene expression.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;We analyzed RNA-sequencing data from bronchial epithelial brushings obtained from uninfected individuals. We related ACE2 gene expression to host and environmental factors in the SPIROMICS cohort of smokers with and without chronic obstructive pulmonary disease (COPD) and replicated these associations in two asthma cohorts, SARP and MAST. To identify airway biology beyond ACE2 binding that may contribute to increased susceptibility, we used gene set enrichment analyses to determine if gene expression changes indicative of a suppressed airway immune response observed early in SARS-CoV-2 infection are also observed in association with host factors. To identify host genetic variants affecting COVID-19 susceptibility in SPIROMICS, we performed expression quantitative trait (eQTL) mapping and investigated the phenotypic associations of the eQTL variants.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We found that ACE2 expression was higher in relation to active smoking, obesity, and hypertension that are known risk factors of COVID-19 severity, while an association with interferon-related inflammation was driven by the truncated, non-binding ACE2 isoform. We discovered that expression patterns of a suppressed airway immune response to early SARS-CoV-2 infection, compared to other viruses, are similar to patterns associated with obesity, hypertension, and cardiovascular disease, which may thus contribute to a COVID-19-susceptible airway environment. eQTL mapping identified regulatory variants for genes implicated in COVID-19, some of which had pheWAS evidence for their potential role in respiratory infections.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;These data provide evidence that clinically relevant variation in the expression of COVID-19-related genes is associated with host factors, environmental exposures, and likely host genetic variation.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/33883027?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Kim-Hellmuth, Sarah</style></author><author><style face="normal" font="default" size="100%">Aguet, François</style></author><author><style face="normal" font="default" size="100%">Oliva, Meritxell</style></author><author><style face="normal" font="default" size="100%">Muñoz-Aguirre, Manuel</style></author><author><style face="normal" font="default" size="100%">Kasela, Silva</style></author><author><style face="normal" font="default" size="100%">Wucher, Valentin</style></author><author><style face="normal" font="default" size="100%">Castel, Stephane E</style></author><author><style face="normal" font="default" size="100%">Hamel, Andrew R</style></author><author><style face="normal" font="default" size="100%">Viñuela, Ana</style></author><author><style face="normal" font="default" size="100%">Roberts, Amy L</style></author><author><style face="normal" font="default" size="100%">Mangul, Serghei</style></author><author><style face="normal" font="default" size="100%">Wen, Xiaoquan</style></author><author><style face="normal" font="default" size="100%">Wang, Gao</style></author><author><style face="normal" font="default" size="100%">Barbeira, Alvaro N</style></author><author><style face="normal" font="default" size="100%">Garrido-Martín, Diego</style></author><author><style face="normal" font="default" size="100%">Nadel, Brian B</style></author><author><style face="normal" font="default" size="100%">Zou, Yuxin</style></author><author><style face="normal" font="default" size="100%">Bonazzola, Rodrigo</style></author><author><style face="normal" font="default" size="100%">Quan, Jie</style></author><author><style face="normal" font="default" size="100%">Brown, Andrew</style></author><author><style face="normal" font="default" size="100%">Martinez-Perez, Angel</style></author><author><style face="normal" font="default" size="100%">Soria, José Manuel</style></author><author><style face="normal" font="default" size="100%">Getz, Gad</style></author><author><style face="normal" font="default" size="100%">Dermitzakis, Emmanouil T</style></author><author><style face="normal" font="default" size="100%">Small, Kerrin S</style></author><author><style face="normal" font="default" size="100%">Stephens, Matthew</style></author><author><style face="normal" font="default" size="100%">Xi, Hualin S</style></author><author><style face="normal" font="default" size="100%">Im, Hae Kyung</style></author><author><style face="normal" font="default" size="100%">Guigo, Roderic</style></author><author><style face="normal" font="default" size="100%">Segrè, Ayellet V</style></author><author><style face="normal" font="default" size="100%">Stranger, Barbara E</style></author><author><style face="normal" font="default" size="100%">Ardlie, Kristin G</style></author><author><style face="normal" font="default" size="100%">Lappalainen, Tuuli</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">GTEx Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Cell type-specific genetic regulation of gene expression across human tissues.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Organ Specificity</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Long Noncoding</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcriptome</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 09 11</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">369</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type-interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6509</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32913075?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Oliva, Meritxell</style></author><author><style face="normal" font="default" size="100%">Muñoz-Aguirre, Manuel</style></author><author><style face="normal" font="default" size="100%">Kim-Hellmuth, Sarah</style></author><author><style face="normal" font="default" size="100%">Wucher, Valentin</style></author><author><style face="normal" font="default" size="100%">Gewirtz, Ariel D H</style></author><author><style face="normal" font="default" size="100%">Cotter, Daniel J</style></author><author><style face="normal" font="default" size="100%">Parsana, Princy</style></author><author><style face="normal" font="default" size="100%">Kasela, Silva</style></author><author><style face="normal" font="default" size="100%">Balliu, Brunilda</style></author><author><style face="normal" font="default" size="100%">Viñuela, Ana</style></author><author><style face="normal" font="default" size="100%">Castel, Stephane E</style></author><author><style face="normal" font="default" size="100%">Mohammadi, Pejman</style></author><author><style face="normal" font="default" size="100%">Aguet, François</style></author><author><style face="normal" font="default" size="100%">Zou, Yuxin</style></author><author><style face="normal" font="default" size="100%">Khramtsova, Ekaterina A</style></author><author><style face="normal" font="default" size="100%">Skol, Andrew D</style></author><author><style face="normal" font="default" size="100%">Garrido-Martín, Diego</style></author><author><style face="normal" font="default" size="100%">Reverter, Ferran</style></author><author><style face="normal" font="default" size="100%">Brown, Andrew</style></author><author><style face="normal" font="default" size="100%">Evans, Patrick</style></author><author><style face="normal" font="default" size="100%">Gamazon, Eric R</style></author><author><style face="normal" font="default" size="100%">Payne, Anthony</style></author><author><style face="normal" font="default" size="100%">Bonazzola, Rodrigo</style></author><author><style face="normal" font="default" size="100%">Barbeira, Alvaro N</style></author><author><style face="normal" font="default" size="100%">Hamel, Andrew R</style></author><author><style face="normal" font="default" size="100%">Martinez-Perez, Angel</style></author><author><style face="normal" font="default" size="100%">Soria, José Manuel</style></author><author><style face="normal" font="default" size="100%">Pierce, Brandon L</style></author><author><style face="normal" font="default" size="100%">Stephens, Matthew</style></author><author><style face="normal" font="default" size="100%">Eskin, Eleazar</style></author><author><style face="normal" font="default" size="100%">Dermitzakis, Emmanouil T</style></author><author><style face="normal" font="default" size="100%">Segrè, Ayellet V</style></author><author><style face="normal" font="default" size="100%">Im, Hae Kyung</style></author><author><style face="normal" font="default" size="100%">Engelhardt, Barbara E</style></author><author><style face="normal" font="default" size="100%">Ardlie, Kristin G</style></author><author><style face="normal" font="default" size="100%">Montgomery, Stephen B</style></author><author><style face="normal" font="default" size="100%">Battle, Alexis J</style></author><author><style face="normal" font="default" size="100%">Lappalainen, Tuuli</style></author><author><style face="normal" font="default" size="100%">Guigo, Roderic</style></author><author><style face="normal" font="default" size="100%">Stranger, Barbara E</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">GTEx Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">The impact of sex on gene expression across human tissues.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, X</style></keyword><keyword><style  face="normal" font="default" size="100%">Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Epigenesis, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Organ Specificity</style></keyword><keyword><style  face="normal" font="default" size="100%">Promoter Regions, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Characteristics</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Factors</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 09 11</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">369</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6509</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32913072?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Kim-Hellmuth, Sarah</style></author><author><style face="normal" font="default" size="100%">Bechheim, Matthias</style></author><author><style face="normal" font="default" size="100%">Pütz, Benno</style></author><author><style face="normal" font="default" size="100%">Mohammadi, Pejman</style></author><author><style face="normal" font="default" size="100%">Nédélec, Yohann</style></author><author><style face="normal" font="default" size="100%">Giangreco, Nicholas</style></author><author><style face="normal" font="default" size="100%">Becker, Jessica</style></author><author><style face="normal" font="default" size="100%">Kaiser, Vera</style></author><author><style face="normal" font="default" size="100%">Fricker, Nadine</style></author><author><style face="normal" font="default" size="100%">Beier, Esther</style></author><author><style face="normal" font="default" size="100%">Boor, Peter</style></author><author><style face="normal" font="default" size="100%">Castel, Stephane E</style></author><author><style face="normal" font="default" size="100%">Nöthen, Markus M</style></author><author><style face="normal" font="default" size="100%">Barreiro, Luis B</style></author><author><style face="normal" font="default" size="100%">Pickrell, Joseph K</style></author><author><style face="normal" font="default" size="100%">Müller-Myhsok, Bertram</style></author><author><style face="normal" font="default" size="100%">Lappalainen, Tuuli</style></author><author><style face="normal" font="default" size="100%">Schumacher, Johannes</style></author><author><style face="normal" font="default" size="100%">Hornung, Veit</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Commun</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat Commun</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Acetylmuramyl-Alanyl-Isoglutamine</style></keyword><keyword><style  face="normal" font="default" size="100%">Adjuvants, Immunologic</style></keyword><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Autoimmune Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Profiling</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Healthy Volunteers</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Indicators and Reagents</style></keyword><keyword><style  face="normal" font="default" size="100%">Lipids</style></keyword><keyword><style  face="normal" font="default" size="100%">Lipopolysaccharides</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Monocytes</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Regulatory Sequences, Nucleic Acid</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Double-Stranded</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Messenger</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Aug 16</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">8</style></volume><pages><style face="normal" font="default" size="100%">266</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The immune system plays a major role in human health and disease, and understanding genetic causes of interindividual variability of immune responses is vital. Here, we isolate monocytes from 134 genotyped individuals, stimulate these cells with three defined microbe-associated molecular patterns (LPS, MDP, and 5'-ppp-dsRNA), and profile the transcriptomes at three time points. Mapping expression quantitative trait loci (eQTL), we identify 417 response eQTLs (reQTLs) with varying effects between conditions. We characterize the dynamics of genetic regulation on early and late immune response and observe an enrichment of reQTLs in distal cis-regulatory elements. In addition, reQTLs are enriched for recent positive selection with an evolutionary trend towards enhanced immune response. Finally, we uncover reQTL effects in multiple GWAS loci and show a stronger enrichment for response than constant eQTLs in GWAS signals of several autoimmune diseases. This demonstrates the importance of infectious stimuli in modifying genetic predisposition to disease.Insight into the genetic influence on the immune response is important for the understanding of interindividual variability in human pathologies. Here, the authors generate transcriptome data from human blood monocytes stimulated with various immune stimuli and provide a time-resolved response eQTL map.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/28814792?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Mohammadi, Pejman</style></author><author><style face="normal" font="default" size="100%">Castel, Stephane E</style></author><author><style face="normal" font="default" size="100%">Brown, Andrew A</style></author><author><style face="normal" font="default" size="100%">Lappalainen, Tuuli</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Quantifying the regulatory effect size of -acting genetic variation using allelic fold change.</style></title><secondary-title><style face="normal" font="default" size="100%">Genome Res</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Genome Res</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Profiling</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Regulatory Networks</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Models, Theoretical</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Nov</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">27</style></volume><pages><style face="normal" font="default" size="100%">1872-1884</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Mapping -acting expression quantitative trait loci (-eQTL) has become a popular approach for characterizing proximal genetic regulatory variants. In this paper, we describe and characterize log allelic fold change (aFC), the magnitude of expression change associated with a given genetic variant, as a biologically interpretable unit for quantifying the effect size of -eQTLs and a mathematically convenient approach for systematic modeling of -regulation. This measure is mathematically independent from expression level and allele frequency, additive, applicable to multiallelic variants, and generalizable to multiple independent variants. We provide efficient tools and guidelines for estimating aFC from both eQTL and allelic expression data sets and apply it to Genotype Tissue Expression (GTEx) data. We show that aFC estimates independently derived from eQTL and allelic expression data are highly consistent, and identify technical and biological correlates of eQTL effect size. We generalize aFC to analyze genes with two eQTLs in GTEx and show that in nearly all cases the two eQTLs act independently in regulating gene expression. In summary, aFC is a solid measure of -regulatory effect size that allows quantitative interpretation of cellular regulatory events from population data, and it is a valuable approach for investigating novel aspects of eQTL data sets.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">11</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/29021289?dopt=Abstract</style></custom1></record></records></xml>