Genetic effects on gene expression across human tissues

Aguet, François; Brown, Andrew A.; Castel, Stephane E.; Davis, Joe R.; He, Yuan; Jo, Brian; Mohammadi, Pejman; Park, YoSon; Parsana, Princy; Segrè, Ayellet V.; Strober, Benjamin J.; Zappala, Zachary; Cummings, Beryl B.; Gelfand, Ellen T.; Hadley, Kane; Huang, Katherine H.; Lek, Monkol; Li, Xiao; Nedzel, Jared L.; Nguyen, Duyen Y.; Noble, Michael S.; Sullivan, Timothy J.; Tukiainen, Taru; MacArthur, Daniel G.; Getz, Gad; Addington, Anjene; Guan, Ping; Koester, Susan; Little, A. Roger; Lockhart, Nicole C.; Moore, Helen M.; Rao, Abhi; Struewing, Jeffery P.; Volpi, Simona; Brigham, Lori E.; Hasz, Richard; Hunter, Marcus; Johns, Christopher; Johnson, Mark; Kopen, Gene; Leinweber, William F.; Lonsdale, John T.; McDonald, Alisa; Mestichelli, Bernadette; Myer, Kevin; Roe, Bryan; Salvatore, Michael; Shad, Saboor; Thomas, Jeffrey A.; Walters, Gary; Washington, Michael; Wheeler, Joseph; Bridge, Jason; Foster, Barbara A.; Gillard, Bryan M.; Karasik, Ellen; Kumar, Rachna; Miklos, Mark; Moser, Michael T.; Jewell, Scott D.; Montroy, Robert G.; Rohrer, Daniel C.; Valley, Dana; Mash, Deborah C.; Davis, David A.; Sobin, Leslie; Barcus, Mary E.; Branton, Philip A.; Abell, Nathan S.; Balliu, Brunilda; Delaneau, Olivier; Frésard, Laure; Gamazon, Eric R.; Garrido-Martín, Diego; Gewirtz, Ariel D.H.; Gliner, Genna; Gloudemans, Michael J.; Han, Buhm; He, Amy Z.; Hormozdiari, Farhad; Li, Xin; Liu, Boxiang; Kang, Eun Yong; McDowell, Ian C.; Ongen, Halit; Palowitch, John J.; Peterson, Christine B.; Quon, Gerald; Ripke, Stephan; Saha, Ashis; Shabalin, Andrey A.; Shimko, Tyler C.; Sul, Jae Hoon; Teran, Nicole A.; Tsang, Emily K.; Zhang, Hailei; Zhou, Yi-Hui; Bustamante, Carlos D.; Cox, Nancy J.; Guigó, Roderic; Kellis, Manolis; McCarthy, Mark I.; Conrad, Donald F.; Eskin, Eleazar; Li, Gen; Nobel, Andrew B.; Sabatti, Chiara; Stranger, Barbara E.; Wen, Xiaoquan; Wright, Fred A.; Ardlie, Kristin G.; Dermitzakis, Emmanouil T.; Lappalainen, Tuuli; Battle, Alexis; Brown, Christopher D.; Engelhardt, Barbara E.; Montgomery, Stephen B.; Handsaker, Robert E.; Kashin, Seva; Karczewski, Konrad J.; Nguyen, Duyen T.; Trowbridge, Casandra A.; Barshir, Ruth; Basha, Omer; Bogu, Gireesh K.; Chen, Lin S.; Chiang, Colby; Damani, Farhan N.; Ferreira, Pedro G.; Hall, Ira M.; Howald, Cedric; Im, Hae Kyung; Kim, Yungil; Kim-Hellmuth, Sarah; Mangul, Serghei; Monlong, Jean; Muñoz-Aguirre, Manuel; Ndungu, Anne W.; Nicolae, Dan L.; Oliva, Meritxell; Panousis, Nikolaos; Papasaikas, Panagiotis; Payne, Anthony J.; Quan, Jie; Reverter, Ferran; Sammeth, Michael; Scott, Alexandra J.; Sodaei, Reza; Stephens, Matthew; Urbut, Sarah; Van De Bunt, Martijn; Wang, Gao; Xi, Hualin S.; Yeger-Lotem, Esti; Zaugg, Judith B.; Akey, Joshua M.; Bates, Daniel; Chan, Joanne; Claussnitzer, Melina; Demanelis, Kathryn; Diegel, Morgan; Doherty, Jennifer A.; Feinberg, Andrew P.; Fernando, Marian S.; Halow, Jessica; Hansen, Kasper D.; Haugen, Eric; Hickey, Peter F.; Hou, Lei; Jasmine, Farzana; Jian, Ruiqi; Jiang, Lihua; Johnson, Audra; Kaul, Rajinder; Kibriya, Muhammad G.; Lee, Kristen; Li, Jin Billy; Li, Qin; Lin, Jessica; Lin, Shin; Linder, Sandra; Linke, Caroline; Liu, Yaping; Maurano, Matthew T.; Molinie, Benoit; Nelson, Jemma; Neri, Fidencio J.; Park, Yongjin; Pierce, Brandon L.; Rinaldi, Nicola J.; Rizzardi, Lindsay F.; Sandstrom, Richard; Skol, Andrew; Smith, Kevin S.; Snyder, Michael P.; Stamatoyannopoulos, John; Tang, Hua; Wang, Li; Wang, Meng; Van Wittenberghe, Nicholas; Wu, Fan; Zhang, Rui; Nierras, Concepcion R.; Carithers, Latarsha J.; Vaught, Jimmie B.; Gould, Sarah E.; Lockart, Nicole C.; Martin, Casey; Addington, Anjene M.; Koester, Susan E.; Undale, Anita H.; Smith, Anna M.; Tabor, David E.; Roche, Nancy V.; McLean, Jeffrey A.; Vatanian, Negin; Robinson, Karna L.; Valentino, Kimberly M.; Qi, Liqun; Hunter, Steven; Hariharan, Pushpa; Singh, Shilpi; Um, Ki Sung; Matose, Takunda; Tomaszewski, Maria M.; Barker, Laura K.; Mosavel, Maghboeba; Siminoff, Laura A.; Traino, Heather M.; Flicek, Paul; Juettemann, Thomas; Ruffier, Magali; Sheppard, Dan; Taylor, Kieron; Trevanion, Stephen J.; Zerbino, Daniel R.; Craft, Brian; Goldman, Mary; Haeussler, Maximilian; Kent, W. James; Lee, Christopher M.; Paten, Benedict; Rosenbloom, Kate R.; Vivian, John; Zhu, Jingchun

doi:10.1038/nature24277

서울대학교 중앙도서관

S-Space 소개

My S-Space

로그인이 필요합니다.

S-Space

Publications

Detailed Information

Genetic effects on gene expression across human tissues

Cited 2302 time in Web of Science Cited 2321 time in Scopus

Export

Authors: Aguet, François; Brown, Andrew A.; Castel, Stephane E.; Davis, Joe R.; He, Yuan; Jo, Brian; Mohammadi, Pejman; Park, YoSon; Parsana, Princy; Segrè, Ayellet V.; Strober, Benjamin J.; Zappala, Zachary; Cummings, Beryl B.; Gelfand, Ellen T.; Hadley, Kane; Huang, Katherine H.; Lek, Monkol; Li, Xiao; Nedzel, Jared L.; Nguyen, Duyen Y.; Noble, Michael S.; Sullivan, Timothy J.; Tukiainen, Taru; MacArthur, Daniel G.; Getz, Gad; Addington, Anjene; Guan, Ping; Koester, Susan; Little, A. Roger; Lockhart, Nicole C.; Moore, Helen M.; Rao, Abhi; Struewing, Jeffery P.; Volpi, Simona; Brigham, Lori E.; Hasz, Richard; Hunter, Marcus; Johns, Christopher; Johnson, Mark; Kopen, Gene; Leinweber, William F.; Lonsdale, John T.; McDonald, Alisa; Mestichelli, Bernadette; Myer, Kevin; Roe, Bryan; Salvatore, Michael; Shad, Saboor; Thomas, Jeffrey A.; Walters, Gary; Washington, Michael; Wheeler, Joseph; Bridge, Jason; Foster, Barbara A.; Gillard, Bryan M.; Karasik, Ellen; Kumar, Rachna; Miklos, Mark; Moser, Michael T.; Jewell, Scott D.; Montroy, Robert G.; Rohrer, Daniel C.; Valley, Dana; Mash, Deborah C.; Davis, David A.; Sobin, Leslie; Barcus, Mary E.; Branton, Philip A.; Abell, Nathan S.; Balliu, Brunilda; Delaneau, Olivier; Frésard, Laure; Gamazon, Eric R.; Garrido-Martín, Diego; Gewirtz, Ariel D.H.; Gliner, Genna; Gloudemans, Michael J.; Han, Buhm; He, Amy Z.; Hormozdiari, Farhad; Li, Xin; Liu, Boxiang; Kang, Eun Yong; McDowell, Ian C.; Ongen, Halit; Palowitch, John J.; Peterson, Christine B.; Quon, Gerald; Ripke, Stephan; Saha, Ashis; Shabalin, Andrey A.; Shimko, Tyler C.; Sul, Jae Hoon; Teran, Nicole A.; Tsang, Emily K.; Zhang, Hailei; Zhou, Yi-Hui; Bustamante, Carlos D.; Cox, Nancy J.; Guigó, Roderic; Kellis, Manolis; McCarthy, Mark I.; Conrad, Donald F.; Eskin, Eleazar; Li, Gen; Nobel, Andrew B.; Sabatti, Chiara; Stranger, Barbara E.; Wen, Xiaoquan; Wright, Fred A.; Ardlie, Kristin G.; Dermitzakis, Emmanouil T.; Lappalainen, Tuuli; Battle, Alexis; Brown, Christopher D.; Engelhardt, Barbara E.; Montgomery, Stephen B.; Handsaker, Robert E.; Kashin, Seva; Karczewski, Konrad J.; Nguyen, Duyen T.; Trowbridge, Casandra A.; Barshir, Ruth; Basha, Omer; Bogu, Gireesh K.; Chen, Lin S.; Chiang, Colby; Damani, Farhan N.; Ferreira, Pedro G.; Hall, Ira M.; Howald, Cedric; Im, Hae Kyung; Kim, Yungil; Kim-Hellmuth, Sarah; Mangul, Serghei; Monlong, Jean; Muñoz-Aguirre, Manuel; Ndungu, Anne W.; Nicolae, Dan L.; Oliva, Meritxell; Panousis, Nikolaos; Papasaikas, Panagiotis; Payne, Anthony J.; Quan, Jie; Reverter, Ferran; Sammeth, Michael; Scott, Alexandra J.; Sodaei, Reza; Stephens, Matthew; Urbut, Sarah; Van De Bunt, Martijn; Wang, Gao; Xi, Hualin S.; Yeger-Lotem, Esti; Zaugg, Judith B.; Akey, Joshua M.; Bates, Daniel; Chan, Joanne; Claussnitzer, Melina; Demanelis, Kathryn; Diegel, Morgan; Doherty, Jennifer A.; Feinberg, Andrew P.; Fernando, Marian S.; Halow, Jessica; Hansen, Kasper D.; Haugen, Eric; Hickey, Peter F.; Hou, Lei; Jasmine, Farzana; Jian, Ruiqi; Jiang, Lihua; Johnson, Audra; Kaul, Rajinder; Kibriya, Muhammad G.; Lee, Kristen; Li, Jin Billy; Li, Qin; Lin, Jessica; Lin, Shin; Linder, Sandra; Linke, Caroline; Liu, Yaping; Maurano, Matthew T.; Molinie, Benoit; Nelson, Jemma; Neri, Fidencio J.; Park, Yongjin; Pierce, Brandon L.; Rinaldi, Nicola J.; Rizzardi, Lindsay F.; Sandstrom, Richard; Skol, Andrew; Smith, Kevin S.; Snyder, Michael P.; Stamatoyannopoulos, John; Tang, Hua; Wang, Li; Wang, Meng; Van Wittenberghe, Nicholas; Wu, Fan; Zhang, Rui; Nierras, Concepcion R.; Carithers, Latarsha J.; Vaught, Jimmie B.; Gould, Sarah E.; Lockart, Nicole C.; Martin, Casey; Addington, Anjene M.; Koester, Susan E.; Undale, Anita H.; Smith, Anna M.; Tabor, David E.; Roche, Nancy V.; McLean, Jeffrey A.; Vatanian, Negin; Robinson, Karna L.; Valentino, Kimberly M.; Qi, Liqun; Hunter, Steven; Hariharan, Pushpa; Singh, Shilpi; Um, Ki Sung; Matose, Takunda; Tomaszewski, Maria M.; Barker, Laura K.; Mosavel, Maghboeba; Siminoff, Laura A.; Traino, Heather M.; Flicek, Paul; Juettemann, Thomas; Ruffier, Magali; Sheppard, Dan; Taylor, Kieron; Trevanion, Stephen J.; Zerbino, Daniel R.; Craft, Brian; Goldman, Mary; Haeussler, Maximilian; Kent, W. James; Lee, Christopher M.; Paten, Benedict; Rosenbloom, Kate R.; Vivian, John; Zhu, Jingchun

Issue Date: 2017-10

Publisher: Nature Publishing Group

Citation: Nature, Vol.550 No.7675, pp.204-213

Abstract: Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease.