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A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis.
Gu BJ, Field J, Dutertre S, Ou A, Kilpatrick TJ, Lechner-Scott J, Scott R, Lea R, Taylor BV, Stankovich J, Butzkueven H, Gresle M, Laws SM, Petrou S, Hoffjan S, Akkad DA, Graham CA, Hawkins S, Glaser A, Bedri SK, Hillert J, Matute C, Antiguedad A; ANZgene Consortium; Wiley JS. Gu BJ, et al. Hum Mol Genet. 2015 Oct 1;24(19):5644-54. doi: 10.1093/hmg/ddv278. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188005
Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.
Lill CM, Liu T, Schjeide BM, Roehr JT, Akkad DA, Damotte V, Alcina A, Ortiz MA, Arroyo R, Lopez de Lapuente A, Blaschke P, Winkelmann A, Gerdes LA, Luessi F, Fernadez O, Izquierdo G, Antigüedad A, Hoffjan S, Cournu-Rebeix I, Gromöller S, Faber H, Liebsch M, Meissner E, Chanvillard C, Touze E, Pico F, Corcia P; ANZgene Consortium,{dagger}; Dörner T, Steinhagen-Thiessen E, Baeckman L, Heekeren HR, Li SC, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Fontaine B, Vandenbroeck K, Matesanz F, Urcelay E, Bertram L, Zipp F. Lill CM, et al. J Med Genet. 2012 Sep;49(9):558-62. doi: 10.1136/jmedgenet-2012-101175. J Med Genet. 2012. PMID: 22972946
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
Patsopoulos NA; Bayer Pharma MS Genetics Working Group; Steering Committees of Studies Evaluating IFNβ-1b and a CCR1-Antagonist; ANZgene Consortium; GeneMSA; International Multiple Sclerosis Genetics Consortium; Esposito F, Reischl J, Lehr S, Bauer D, Heubach J, Sandbrink R, Pohl C, Edan G, Kappos L, Miller D, Montalbán J, Polman CH, Freedman MS, Hartung HP, Arnason BG, Comi G, Cook S, Filippi M, Goodin DS, Jeffery D, O'Connor P, Ebers GC, Langdon D, Reder AT, Traboulsee A, Zipp F, Schimrigk S, Hillert J, Bahlo M, Booth DR, Broadley S, Brown MA, Browning BL, Browning SR, Butzkueven H, Carroll WM, Chapman C, Foote SJ, Griffiths L, Kermode AG, Kilpatrick TJ, Lechner-Scott J, Marriott M, Mason D, Moscato P, Heard RN, Pender MP, Perreau VM, Perera D, Rubio JP, Scott RJ, Slee M, Stankovich J, Stewart GJ, Taylor BV, Tubridy N, Willoughby E, Wiley J, Matthews P, Boneschi FM, Compston A, Haines J, Hauser SL, McCauley J, Ivinson A, Oksenberg JR, Pericak-Vance M, Sawcer SJ, De Jager PL, Hafler DA, de Bakker PI. Patsopoulos NA, et al. Ann Neurol. 2011 Dec;70(6):897-912. doi: 10.1002/ana.22609. Ann Neurol. 2011. PMID: 22190364 Free PMC article.
Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis.
Zhou Y, Zhu G, Charlesworth JC, Simpson S Jr, Rubicz R, Göring HH, Patsopoulos NA, Laverty C, Wu F, Henders A, Ellis JJ, van der Mei I, Montgomery GW, Blangero J, Curran JE, Johnson MP, Martin NG, Nyholt DR, Taylor BV; ANZgene consortium. Zhou Y, et al. Mult Scler. 2016 Nov;22(13):1655-1664. doi: 10.1177/1352458515626598. Epub 2016 Jan 27. Mult Scler. 2016. PMID: 26819262
Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.
Lee SH, Harold D, Nyholt DR; ANZGene Consortium; International Endogene Consortium; Genetic and Environmental Risk for Alzheimer's disease Consortium; Goddard ME, Zondervan KT, Williams J, Montgomery GW, Wray NR, Visscher PM. Lee SH, et al. Hum Mol Genet. 2013 Feb 15;22(4):832-41. doi: 10.1093/hmg/dds491. Epub 2012 Nov 28. Hum Mol Genet. 2013. PMID: 23193196 Free PMC article.