A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis.
dc.date.accessioned | 2020-04-11T19:08:21Z | |
dc.date.available | 2020-04-11T19:08:21Z | |
dc.date.created | 2019-10-17T09:34:44Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | Madireddy, L Patsopoulos, NA Cotsapas, C Bos, Steffan Daniel Beecham, Ashley McCauley, J Kim, K Jia, X Santaniello, A Caillier, SJ Andlauer, TFM Barcellos, Lisa Berge, Tone Bernardinelli, L Martinelli-Boneschi, F Booth, D Briggs, Farren Celius, Elisabeth Gulowsen Comabella, M Comi, G Cree, BAC D'Alfonso, S Dedham, K Duquette, P. Dardiotis, E Esposito, F Gasperi, Christiane Goris, A Dubois, B Gourraud, PA Hadjigeorgiou, GM Haines, J Hawkins, C Hemmer, B Hintzen, R Horakova, D Isobe, N Kalra, S Kira, Jun-ichi Khalil, M Kockum, I Lill, CM Lincoln, Michelle Luessi, F Martin, R Oturai, A Palotie, A Pericak-Vance, MA Henry, R Saarela, J Ivinson, Adrian Olsson, Thomas Taylor, Bruce Stewart, GJ Harbo, Hanne Flinstad Compston, A Hauser, SL Hafler, DA Zipp, F De Jager, P Sawcer, S Oksenberg, JR Baranzini, SE . A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis.. Nature Communications. 2019, 10 | |
dc.identifier.uri | http://hdl.handle.net/10852/74486 | |
dc.description.abstract | Genome-wide association studies (GWAS) have identified more than 50,000 unique associations with common human traits. While this represents a substantial step forward, establishing the biology underlying these associations has proven extremely difficult. Even determining which cell types and which particular gene(s) are relevant continues to be a challenge. Here, we conduct a cell-specific pathway analysis of the latest GWAS in multiple sclerosis (MS), which had analyzed a total of 47,351 cases and 68,284 healthy controls and found more than 200 non-MHC genome-wide associations. Our analysis identifies pan immune cell as well as cell-specific susceptibility genes in T cells, B cells and monocytes. Finally, genotype-level data from 2,370 patients and 412 controls is used to compute intra-individual and cell-specific susceptibility pathways that offer a biological interpretation of the individual genetic risk to MS. This approach could be adopted in any other complex trait for which genome-wide data is available. | |
dc.language | EN | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis. | |
dc.type | Journal article | |
dc.creator.author | Madireddy, L | |
dc.creator.author | Patsopoulos, NA | |
dc.creator.author | Cotsapas, C | |
dc.creator.author | Bos, Steffan Daniel | |
dc.creator.author | Beecham, Ashley | |
dc.creator.author | McCauley, J | |
dc.creator.author | Kim, K | |
dc.creator.author | Jia, X | |
dc.creator.author | Santaniello, A | |
dc.creator.author | Caillier, SJ | |
dc.creator.author | Andlauer, TFM | |
dc.creator.author | Barcellos, Lisa | |
dc.creator.author | Berge, Tone | |
dc.creator.author | Bernardinelli, L | |
dc.creator.author | Martinelli-Boneschi, F | |
dc.creator.author | Booth, D | |
dc.creator.author | Briggs, Farren | |
dc.creator.author | Celius, Elisabeth Gulowsen | |
dc.creator.author | Comabella, M | |
dc.creator.author | Comi, G | |
dc.creator.author | Cree, BAC | |
dc.creator.author | D'Alfonso, S | |
dc.creator.author | Dedham, K | |
dc.creator.author | Duquette, P. | |
dc.creator.author | Dardiotis, E | |
dc.creator.author | Esposito, F | |
dc.creator.author | Gasperi, Christiane | |
dc.creator.author | Goris, A | |
dc.creator.author | Dubois, B | |
dc.creator.author | Gourraud, PA | |
dc.creator.author | Hadjigeorgiou, GM | |
dc.creator.author | Haines, J | |
dc.creator.author | Hawkins, C | |
dc.creator.author | Hemmer, B | |
dc.creator.author | Hintzen, R | |
dc.creator.author | Horakova, D | |
dc.creator.author | Isobe, N | |
dc.creator.author | Kalra, S | |
dc.creator.author | Kira, Jun-ichi | |
dc.creator.author | Khalil, M | |
dc.creator.author | Kockum, I | |
dc.creator.author | Lill, CM | |
dc.creator.author | Lincoln, Michelle | |
dc.creator.author | Luessi, F | |
dc.creator.author | Martin, R | |
dc.creator.author | Oturai, A | |
dc.creator.author | Palotie, A | |
dc.creator.author | Pericak-Vance, MA | |
dc.creator.author | Henry, R | |
dc.creator.author | Saarela, J | |
dc.creator.author | Ivinson, Adrian | |
dc.creator.author | Olsson, Thomas | |
dc.creator.author | Taylor, Bruce | |
dc.creator.author | Stewart, GJ | |
dc.creator.author | Harbo, Hanne Flinstad | |
dc.creator.author | Compston, A | |
dc.creator.author | Hauser, SL | |
dc.creator.author | Hafler, DA | |
dc.creator.author | Zipp, F | |
dc.creator.author | De Jager, P | |
dc.creator.author | Sawcer, S | |
dc.creator.author | Oksenberg, JR | |
dc.creator.author | Baranzini, SE | |
cristin.unitcode | 185,53,42,13 | |
cristin.unitname | Nevrologisk avdeling | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 1770667 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Communications&rft.volume=10&rft.spage=&rft.date=2019 | |
dc.identifier.jtitle | Nature Communications | |
dc.identifier.volume | 10 | |
dc.identifier.issue | 1 | |
dc.identifier.pagecount | 12 | |
dc.identifier.doi | https://doi.org/10.1038/s41467-019-09773-y | |
dc.identifier.urn | URN:NBN:no-77586 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 2041-1723 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/74486/1/41467_2019_Article_9773.pdf | |
dc.type.version | PublishedVersion | |
cristin.articleid | 2236 |
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