The impact of sex on gene expression across human tissues
Meritxell Oliva(Chicago Department of Public Health), Manuel Muñoz-Aguirre(Centre for Genomic Regulation), Sarah Kim-Hellmuth(Max Planck Institute of Psychiatry), Valentin Wucher(Centre for Genomic Regulation), Ariel DH Gewirtz(Princeton University), Daniel J. Cotter(Stanford University), Princy Parsana(Johns Hopkins University), Silva Kasela(New York Genome Center), Brunilda Balliu(University of California, Los Angeles), Ana Viñuela(University of Geneva), Stephane E. Castel(New York Genome Center), Pejman Mohammadi(Scripps Research Institute), François Aguet(Broad Institute), Yuxin Zou(University of Chicago), Ekaterina Khramtsova(University of Chicago), Andrew D. Skol(Lurie Children's Hospital), Diego Garrido-Martín(Centre for Genomic Regulation), Ferrán Reverter(Universitat de Barcelona), Andrew Brown(University of Dundee), Patrick Evans(Vanderbilt University Medical Center), Eric R. Gamazon(University of Cambridge), A. J. Payne(Centre for Human Genetics), Rodrigo Bonazzola(University of Chicago), Alvaro Barbeira(University of Chicago), Andrew R. Hamel(Broad Institute), Ángel Martínez-Pérez(Hospital de Sant Pau), José Manuel Soria(Hospital de Sant Pau), Brandon L. Pierce(Chicago Department of Public Health), Matthew Stephens(University of Chicago), Eleazar Eskin(University of California, Los Angeles), Emmanouil T. Dermitzakis(University of Geneva), Ayellet V. Segrè(Broad Institute), Hae Kyung Im(University of Chicago), Barbara E. Engelhardt(Princeton University), Kristin Ardlie(Broad Institute), Stephen B. Montgomery(Stanford University), Alexis Battle(Johns Hopkins University), Tuuli Lappalainen(New York Genome Center), Roderic Guigó(Universitat Pompeu Fabra), Barbara E. Stranger(Northwestern University), François Aguet(Broad Institute), Shankara Anand, Kristin Ardlie(Broad Institute), Stacey Gabriel, Gad Getz, Aaron Graubert, Kane Hadley, Robert E. Handsaker, Katherine Huang, Seva Kashin, Xiao Li(New York Genome Center), Daniel G. MacArthur, Samuel R. Meier, Jared L. Nedzel, Duyen T. Nguyen, Ayellet V. Segrè(Broad Institute), Ellen Todres, Brunilda Balliu(University of California, Los Angeles), Alvaro Barbeira(University of Chicago), Alexis Battle(Johns Hopkins University), Rodrigo Bonazzola(University of Chicago), Andrew Brown(University of Dundee), Christopher D. Brown(University of Dundee), Stephane E. Castel(New York Genome Center), Donald F. Conrad, Daniel J. Cotter(Stanford University), Nancy J. Cox, Sayantan Das, Olivia M. de Goede, Emmanouil T. Dermitzakis(University of Geneva), Jonah Einson, Barbara E. Engelhardt(Princeton University), Eleazar Eskin(University of California, Los Angeles), Tiffany Eulalio, Nicole M. Ferraro, Elise D. Flynn, Laure Frésard, Eric R. Gamazon(University of Cambridge), Diego Garrido-Martín(Centre for Genomic Regulation), Nicole R. Gay, Michael J. Gloudemans, Roderic Guigó(Universitat Pompeu Fabra), Andrew R. Hame(Broad Institute), Yuan He(Stanford University), Paul Hoffman, Farhad Hormozdiari, Lei Hou, Hae Kyung Im(University of Chicago), Brian Jo(Hospital de Sant Pau), Silva Kasela(New York Genome Center), Manolis Kellis, Sarah Kim-Hellmuth(Max Planck Institute of Psychiatry), Alan Kwong, Tuuli Lappalainen(New York Genome Center), Xin Li(New York Genome Center), Yanyu Liang, Serghei Mangul, Pejman Mohammadi(Scripps Research Institute), Stephen B. Montgomery(Stanford University), Manuel Muñoz-Aguirre(Centre for Genomic Regulation), Daniel Nachun(Stanford University), Andrew B. Nobel(University of Dundee), Meritxell Oliva(Chicago Department of Public Health), YoSon Park, Yongjin Park, Princy Parsana(Johns Hopkins University), Abhiram Rao, Ferrán Reverter(Universitat de Barcelona), John M. Rouhana, Chiara Sabatti, Ashis Saha, Matthew Stephens(University of Chicago), Barbara E. Stranger(Northwestern University), Benjamin J. Strober, Nicole A. Teran, Ana Viñuela(University of Geneva), Gao Wang, Xiaoquan Wen, Fred A. Wright, Valentin Wucher(Centre for Genomic Regulation), Yuxin Zou(University of Chicago), Pedro G. Ferreira, Gen Li(New York Genome Center), Marta Melé, Esti Yeger‐Lotem, Mary E. Barcus, Debra Bradbury, Tanya Krubit, Jeffrey A. McLean, Liqun Qi, Karna Robinson, Nancy Roche, Anna Marie Smith, Leslie H. Sobin, David E. Tabor, Anita H. Undale, Jason Bridge, Lori E. Brigham, Barbara A. Foster(Northwestern University), Bryan M. Gillard, Richard Hasz, Marcus Anthony Hunter, Christopher Johns, Mark P. Johnson, Ellen Karasik, Gene Kopen, William F. Leinweber, Alisa McDonald, Michael T. Moser, Kevin Myer, Kimberley D. Ramsey, Brian Roe, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, J. Gary Wheeler, Scott D. Jewell, Daniel C. Rohrer(Stanford University), Dana R. Valley, David A. Davis, Deborah C. Mash, Philip A. Branton, Laura K. Barker, Heather M. Gardiner, Maghboeba Mosavel, Laura A. Siminoff, Paul Flicek, Maximilian Haeussler, Thomas Juettemann, W. James Kent, Christopher M. Lee, Conner C. Powell, Kate R. Rosenbloom(University of Chicago), Magali Ruffier, Dan Sheppard(Stanford University), Kieron Taylor, Stephen J. Trevanion, Daniel R. Zerbino, Nathan S. Abell, Joshua M. Akey, Lin Chen, Kathryn Demanelis, Jennifer A. Doherty, Andrew P. Feinberg, Kasper D. Hansen, Peter F. Hickey, Farzana Jasmine, Lihua Jiang, Rajinder Kaul, Muhammad G. Kibriya, Jin Billy Li(New York Genome Center), Qin Li(New York Genome Center), Shin Lin, Sandra E. Linder, Brandon L. Pierce(Chicago Department of Public Health), Lindsay F. Rizzardi, Andrew D. Skol(Lurie Children's Hospital), Kevin S. Smith, M Snyder, J Stamatoyannopoulos, Hua Tang, Meng Wang, Latarsha J. Carithers, Ping Guan, Susan E. Koester, A. Roger Little, Helen M. Moore, Concepcion R. Nierras, Abhi K. Rao, Jimmie B. Vaught, Simona Volpi
Cited by 709Open Access
Abstract
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.
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