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The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

Articolo
Data di Pubblicazione:
2017
Abstract:
We assembled and analyzed genetic data of 47,351 multiple sclerosis (MS) subjects and 68,284 control subjects and establish a reference map of the genetic architecture of MS that includes 200 autosomal susceptibility variants outside the major histocompatibility complex (MHC), one chromosome X variant, and 32 independent associations within the extended MHC. We used an ensemble of methods to prioritize up to 551 potentially associated MS susceptibility genes, that implicate multiple innate and adaptive pathways distributed across the cellular components of the immune system. Using expression profiles from purified human microglia, we do find enrichment for MS genes in these brain - resident immune cells. Thus, while MS is most likely initially triggered by perturbation of peripheral immune responses the functional responses of microglia and other brain cells are also altered and may have a role in targeting an autoimmune process to the central nervous system.
Tipologia CRIS:
03A-Articolo su Rivista
Elenco autori:
Patsopoulos, NA; Baranzini, SE; Santaniello, A; Shoostari, P; Cotsapas, C; Wong, G; Beecham, AH; James, T; Replogle, J; Vlachos, I; McCabe, C; Pers, T; Brandes, A; White, C; Keenan, B; Cimpean, M; Winn, P; Panteliadis, IP; Robbins, A; Andlauer, TFM; Zarzycki, O; Dubois, B; Goris, A; Sondergaard, H Bach; Sellebjerg, F; Sorensen, P Soelberg; Ullum, H; Thoerner, L Wegner; Saarela, J; Rebeix, I Cournu; Damotte, V; Fontaine, B; Noel, L Guillot; Lathrop, M; Vukusik, S; Berthele, A; Biberacher, V; Buck, D; Gasperi, C; Graetz, C; Grummel, V; Hemmer, B; Hoshi, M; Knier, B; Korn, T; Lill, CM; Luessi, F; Mühlau, M; Zipp, F; Dardiotis, E; Agliardi, C; Amoroso, A; Barizzone, N; Benedetti, MD; Bernardinelli, L; Cavalla, P; Clarelli, F; Comi, G; Cusi, D; Esposito, F; Ferrè, L; Galimberti, D; Guaschino, C; Leone, MA; Martinelli, V; Moiola, L; Salvetti, M; Sorosina, M; Vecchio, D; Zauli, A; Santoro, S; Zuccalà, M; Mescheriakova, J; Duijn, C van; Bos, SD; Celius, EG; Spurkland, A; Comabella, M; Montalban, X; Alfredsson, L; Bomfim, I; Gomez-Cabrero, D; Hillert, J; Jagodic, M; Lindén, M; Piehl, F; Jelčić, I; Martin, R; Sospedra, M; Baker, A; Ban, M; Hawkins, C; Hysi, P; Kalra, S; Karpe, F; Khadake, J; Lachance, G; Molyneux, P; Neville, M; Thorpe, J; Bradshaw, E; Caillier, SJ; Calabresi, P; Cree, BAC; Cross, A; Davis, M; Bakker, PWI de; Delgado, S; Dembele, M; Edwards, K; Fitzgerald, K; Frohlich, IY; Gourraud, PA; Haines, JL; Hakonarson, H; Kimbrough, D; Isobe, N; Konidari, I; Lathi, E; Lee, MH; Li, T; An, D; Zimmer, A; Lo, A; Madireddy, L; Manrique, CP; Mitrovic, M; Olah, M; Patrick, E; Pericak-Vance, MA; Piccio, L; Schaefer, C; Weiner, H; Lage, K; Compston, A; Hafler, D; Harbo, HF; Hauser, SL; Stewart, G; D’Alfonso, S; Hadjigeorgiou, G; Taylor, B; Barcellos, LF; Booth, D; Hintzen, R; Kockum, I; Martinelli-Boneschi, F; McCauley, JL; Oksenberg, JR; Oturai, A; Sawcer, S; Ivinson, AJ; Olsson, T; Jager, PL De; Barclay, Murray; Peyrin-Biroulet, Laurent; Chamaillard, Mathias; Colombe, Jean-Frederick; Cottone, Mario; Croft, Anthony; D’Incà, Renata; Halfvarson, Jonas; Hanigan, Katherine; Henderson, Paul; Hugot, Jean-Pierre; Karban, Amir; Kennedy, Nicholas A; Khan, Mohammed Azam; Lémann, Marc; Levine, Arie; Massey, Dunecan; Milla, Monica; Montgomery, Grant W; Evelyn Ng, Sok Meng; Oikonomou, Ioannis; Peeters, Harald; Proctor, Deborah D.; Rahier, Jean-Francois; Roberts, Rebecca; Rutgeerts, Paul; Seibold, Frank; Stronati, Laura; Taylor, Kirstin M; Törkvist, Leif; Ublick, Kullak; Limbergen, Johan Van; Gossum, Andre Van; Vatn, Morten H.; Zhang, Hu; Zhang, Wei
Autori di Ateneo:
CAVALLA Paola
Link alla scheda completa:
https://iris.unito.it/handle/2318/1771606
Pubblicato in:
SCIENCE
Journal
  • Dati Generali
  • Aree Di Ricerca

Dati Generali

URL

https://www.biorxiv.org/content/10.1101/143933v1.full.pdf+html

Aree Di Ricerca

Settori (13)


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