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Urmo Võsa, Annique Claringbould, Harm-Jan Westra, Marc Jan Bonder, Patrick Deelen, Biao Zeng, Holger Kirsten, Ashis Saha, Roman Kreuzhuber, Seyhan Yazar and 104 more
Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed cis- and trans-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals through the eQTLGen Consortium. We detected cis-eQTL for 88% of genes, and these were replicable in numerous tissues. Distal trans-eQTL (detected for 37% of 10,317 trait-associated variants tested) showed lower replication rates, partially due to low replication power and confounding by cell type composition. However, replication analyses in single-cell RNA-seq data prioritized intracellular trans-eQTL. Trans-eQTL exerted their effects via several mechanisms, primarily through regulation by transcription factors. Expression of 13% of the genes correlated with polygenic scores for 1,263 phenotypes, pinpointing potential drivers for those traits. In summary, this work represents a large eQTL resource, and its results serve as a starting point for in-depth interpretation of complex phenotypes.
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Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., Brugge, H., Oelen, R., Vries, D. H. D., Wijst, M. G. V. D., Kasela, S., Pervjakova, N., Alves, I., Favé, M.-J., Agbessi, M. D. T., … Franke, L. (2021). Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. Nature Genetics, 53(9), 1300–1310. https://doi.org/10.1038/s41588-021-00913-z
Võsa, Urmo, et al. "Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression." Nature Genetics, vol. 53, no. 9, 2021, pp. 1300–1310, https://doi.org/10.1038/s41588-021-00913-z.
Võsa, Urmo, Annique Claringbould, Harm-Jan Westra, Marc Jan Bonder, Patrick Deelen, Biao Zeng, Holger Kirsten, et al. "Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression." Nature Genetics 53, no. 9 (2021): 1300–1310. https://doi.org/10.1038/s41588-021-00913-z.
Võsa U., Claringbould A., Westra H.-J. [и др.] Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression // Nature Genetics. — 2021. — Vol. 53, № 9. — P. 1300–1310. — URL: https://doi.org/10.1038/s41588-021-00913-z
@article{vosa2021largescale,
title = {{Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression}},
author = {Urmo Võsa and Annique Claringbould and Harm-Jan Westra and Marc Jan Bonder and Patrick Deelen and Biao Zeng and Holger Kirsten and Ashis Saha and Roman Kreuzhuber and Seyhan Yazar and Harm Brugge and Roy Oelen and Dylan H. de Vries and Monique G.P. van der Wijst and Silva Kasela and Natalia Pervjakova and Isabel Alves and Marie-Julie Favé and Mawussé D. T. Agbessi and Mark W. Christiansen and Rick Jansen and Ilkka Seppälä and Tong Lin and Alexander Teumer and Katharina Schramm and Gibran Hemani and Joost Verlouw and Hanieh Yaghootkar and Reyhan Sönmez Flitman and Andrew Anand Brown and Viktorija Kukushkina and Anette Kalnapenkis and Sina Rüeger and Eleonora Porcu and Jaanika Kronberg and Johannes Kettunen and Bernett Teck Kwong Lee and Futao Zhang and Ting Qi and José Alquicira-Hernández and Wibowo Arindrarto and Frank Beutner and Peter A.C. ’t Hoen and Joyce B. J. van Meurs and Jenny van Dongen and Maarten van Iterson and Morris A. Swertz and Marc Jan Bonder and Julia Dmitrieva and Mahmoud Elansary and Benjamin P. Fairfax and Michel Georges and Bastiaan T. Heijmans and Alex William Hewitt and Mika A. P. Kähönen and Yungil Kim and Julian Charles Knight and Peter Louis Kovacs and Knut Krohn and Shuang� Li and Markus Loeffler and Urko M. Marigorta and Hailang Mei and Yukihide Momozawa and Martina Müller‐Nurasyid and Matthias A. Nauck and Michel Guillaume Nivard and Brenda W.J.H. Penninx and Jonathan K. Pritchard and Olli Tuomas Raitakari and Olaf Rötzschke and P. Eline Slagboom and Coen D.A. Stehouwer and Michael Stümvoll and Patrick F. Sullivan and Peter A.C. ’t Hoen and Joachim Thiery and Anke Tönjes and Jenny van Dongen and Maarten van Iterson and Jan Herman Veldink and Uwe Völker and Robert Warmerdam and Cisca Wijmenga and Morris A. Swertz and Anand Kumar Andiappan and Grant W. Montgomery and Samuli Ripatti and Markus Perola and Zoltán Kutalik and Emmanouil T. Dermitzakis and Sven Bergmann and Timothy M. Frayling and Joyce B. J. van Meurs and Holger Prokisch and Habibul Ahsan and Brandon L. Pierce and Terho J. Lehtimäki and Dorret Irene Boomsma and Bruce M. Psaty and Sina A. Gharib and Philip Awadalla and Lili A. Milani and Willem Hendrik Ouwehand and Kate Downes and Oliver Stegle and Alexis J. Battle and Peter M. Visscher and Jian Yang and Markus R. Scholz and Joseph E. Powell and Greg C. Gibson and Tõnu Esko and Lude Franke},
journal = {Nature Genetics},
year = {2021},
volume = {53},
number = {9},
pages = {1300--1310},
doi = {10.1038/s41588-021-00913-z},
url = {https://doi.org/10.1038/s41588-021-00913-z}
}TY - JOUR AU - Võsa, Urmo AU - Claringbould, Annique AU - Westra, Harm-Jan AU - Bonder, Marc Jan AU - Deelen, Patrick AU - Zeng, Biao AU - Kirsten, Holger AU - Saha, Ashis AU - Kreuzhuber, Roman AU - Yazar, Seyhan AU - Brugge, Harm AU - Oelen, Roy AU - Vries, Dylan H. de AU - Wijst, Monique G.P. van der AU - Kasela, Silva AU - Pervjakova, Natalia AU - Alves, Isabel AU - Favé, Marie-Julie AU - Agbessi, Mawussé D. T. AU - Christiansen, Mark W. AU - Jansen, Rick AU - Seppälä, Ilkka AU - Lin, Tong AU - Teumer, Alexander AU - Schramm, Katharina AU - Hemani, Gibran AU - Verlouw, Joost AU - Yaghootkar, Hanieh AU - Flitman, Reyhan Sönmez AU - Brown, Andrew Anand AU - Kukushkina, Viktorija AU - Kalnapenkis, Anette AU - Rüeger, Sina AU - Porcu, Eleonora AU - Kronberg, Jaanika AU - Kettunen, Johannes AU - Lee, Bernett Teck Kwong AU - Zhang, Futao AU - Qi, Ting AU - Alquicira-Hernández, José AU - Arindrarto, Wibowo AU - Beutner, Frank AU - Hoen, Peter A.C. ’t AU - Meurs, Joyce B. J. van AU - Dongen, Jenny van AU - Iterson, Maarten van AU - Swertz, Morris A. AU - Bonder, Marc Jan AU - Dmitrieva, Julia AU - Elansary, Mahmoud AU - Fairfax, Benjamin P. AU - Georges, Michel AU - Heijmans, Bastiaan T. AU - Hewitt, Alex William AU - Kähönen, Mika A. P. AU - Kim, Yungil AU - Knight, Julian Charles AU - Kovacs, Peter Louis AU - Krohn, Knut AU - Li, Shuang� AU - Loeffler, Markus AU - Marigorta, Urko M. AU - Mei, Hailang AU - Momozawa, Yukihide AU - Müller‐Nurasyid, Martina AU - Nauck, Matthias A. AU - Nivard, Michel Guillaume AU - Penninx, Brenda W.J.H. AU - Pritchard, Jonathan K. AU - Raitakari, Olli Tuomas AU - Rötzschke, Olaf AU - Slagboom, P. Eline AU - Stehouwer, Coen D.A. AU - Stümvoll, Michael AU - Sullivan, Patrick F. AU - Hoen, Peter A.C. ’t AU - Thiery, Joachim AU - Tönjes, Anke AU - Dongen, Jenny van AU - Iterson, Maarten van AU - Veldink, Jan Herman AU - Völker, Uwe AU - Warmerdam, Robert AU - Wijmenga, Cisca AU - Swertz, Morris A. AU - Andiappan, Anand Kumar AU - Montgomery, Grant W. AU - Ripatti, Samuli AU - Perola, Markus AU - Kutalik, Zoltán AU - Dermitzakis, Emmanouil T. AU - Bergmann, Sven AU - Frayling, Timothy M. AU - Meurs, Joyce B. J. van AU - Prokisch, Holger AU - Ahsan, Habibul AU - Pierce, Brandon L. AU - Lehtimäki, Terho J. AU - Boomsma, Dorret Irene AU - Psaty, Bruce M. AU - Gharib, Sina A. AU - Awadalla, Philip AU - Milani, Lili A. AU - Ouwehand, Willem Hendrik AU - Downes, Kate AU - Stegle, Oliver AU - Battle, Alexis J. AU - Visscher, Peter M. AU - Yang, Jian AU - Scholz, Markus R. AU - Powell, Joseph E. AU - Gibson, Greg C. AU - Esko, Tõnu AU - Franke, Lude TI - Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression JO - Nature Genetics VL - 53 IS - 9 SP - 1300 EP - 1310 PY - 2021 DA - 2021/09/01 DO - 10.1038/s41588-021-00913-z UR - https://doi.org/10.1038/s41588-021-00913-z ER -
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