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A systems biology a...
A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis
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Madireddy, L (author)
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Patsopoulos, NA (author)
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Cotsapas, C (author)
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show more...
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Bos, SD (author)
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Beecham, A (author)
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McCauley, J (author)
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Kim, K (author)
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Jia, XM (author)
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Santaniello, A (author)
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Caillier, SJ (author)
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Andlauer, TFM (author)
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Barcellos, LF (author)
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Berge, T (author)
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Bernardinelli, L (author)
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Martinelli-Boneschi, F (author)
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Booth, DR (author)
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Briggs, F (author)
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Celius, EG (author)
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Comabella, M (author)
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Comi, G (author)
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Cree, BAC (author)
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D'Alfonso, S (author)
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Dedham, K (author)
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Duquette, P (author)
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Efthimios, D (author)
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Esposito, F (author)
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Fontaine, B (author)
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Gasperi, C (author)
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Goris, A (author)
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Dubois, B (author)
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Gourraud, PA (author)
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Hadjigeorgiou, G (author)
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Haines, J (author)
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Hawkins, C (author)
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Hemmer, B (author)
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Hintzen, R (author)
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Horakova, D (author)
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Isobe, N (author)
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Kalra, S (author)
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Kira, J (author)
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Khalil, M (author)
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- Kockum, I (author)
- Karolinska Institutet
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Lill, CM (author)
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Lincoln, MR (author)
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Luessi, F (author)
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Martin, R (author)
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Oturai, A (author)
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Palotie, A (author)
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Pericak-Vance, MA (author)
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Henry, R (author)
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Saarela, J (author)
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Ivinson, A (author)
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- Olsson, T (author)
- Karolinska Institutet
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Taylor, BV (author)
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Stewart, GJ (author)
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Harbo, HF (author)
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Compston, A (author)
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Hauser, SL (author)
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Hafler, DA (author)
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Zipp, F (author)
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De Jager, P (author)
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Sawcer, S (author)
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Oksenberg, JR (author)
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Baranzini, SE (author)
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(creator_code:org_t)
- 2019-05-20
- 2019
- English.
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 2236-
- Related links:
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https://www.nature.c...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Madireddy, L
-
Patsopoulos, NA
-
Cotsapas, C
-
Bos, SD
-
Beecham, A
-
McCauley, J
-
show more...
-
Kim, K
-
Jia, XM
-
Santaniello, A
-
Caillier, SJ
-
Andlauer, TFM
-
Barcellos, LF
-
Berge, T
-
Bernardinelli, L
-
Martinelli-Bones ...
-
Booth, DR
-
Briggs, F
-
Celius, EG
-
Comabella, M
-
Comi, G
-
Cree, BAC
-
D'Alfonso, S
-
Dedham, K
-
Duquette, P
-
Efthimios, D
-
Esposito, F
-
Fontaine, B
-
Gasperi, C
-
Goris, A
-
Dubois, B
-
Gourraud, PA
-
Hadjigeorgiou, G
-
Haines, J
-
Hawkins, C
-
Hemmer, B
-
Hintzen, R
-
Horakova, D
-
Isobe, N
-
Kalra, S
-
Kira, J
-
Khalil, M
-
Kockum, I
-
Lill, CM
-
Lincoln, MR
-
Luessi, F
-
Martin, R
-
Oturai, A
-
Palotie, A
-
Pericak-Vance, M ...
-
Henry, R
-
Saarela, J
-
Ivinson, A
-
Olsson, T
-
Taylor, BV
-
Stewart, GJ
-
Harbo, HF
-
Compston, A
-
Hauser, SL
-
Hafler, DA
-
Zipp, F
-
De Jager, P
-
Sawcer, S
-
Oksenberg, JR
-
Baranzini, SE
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show less...
- Articles in the publication
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Nature communica ...
- By the university
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Karolinska Institutet