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Page 1
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
International Genetics of Ankylosing Spondylitis Consortium (IGAS); Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2); Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA. International Genetics of Ankylosing Spondylitis Consortium (IGAS), et al. Among authors: lie ba. Nat Genet. 2013 Jul;45(7):730-8. doi: 10.1038/ng.2667. Epub 2013 Jun 9. Nat Genet. 2013. PMID: 23749187 Free PMC article.
ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients.
Robinson PC, Costello ME, Leo P, Bradbury LA, Hollis K, Cortes A, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Elewaut D, Burgos-Vargas R, Gensler LS, Stebbings S, Haroon N, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Bowness P, Gafney K, Gaston JS, Gladman DD, Rahman P, Maksymowych WP, Xu H, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez MC, Hansen IM, Pimentel-Santos FM, Inman RD, Martin J, Breban M, Evans D, Reveille JD, Kim TH, Wordsworth BP, Brown MA. Robinson PC, et al. Among authors: lie ba. Ann Rheum Dis. 2015 Aug;74(8):1627-9. doi: 10.1136/annrheumdis-2015-207416. Epub 2015 Apr 27. Ann Rheum Dis. 2015. PMID: 25917849 Free PMC article. No abstract available.
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.
Cortes A, Pulit SL, Leo PJ, Pointon JJ, Robinson PC, Weisman MH, Ward M, Gensler LS, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Haroon N, Mulero J, Blanco FJ, Gonzalez-Gay MA, Lopez-Larrea C, Bowness P, Gaffney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Crusius JB, van der Horst-Bruinsma IE, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Martin J, Breban M, Wordsworth BP, Reveille JD, Evans DM, de Bakker PI, Brown MA. Cortes A, et al. Among authors: lie ba. Nat Commun. 2015 May 21;6:7146. doi: 10.1038/ncomms8146. Nat Commun. 2015. PMID: 25994336 Free PMC article.
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
International Multiple Sclerosis Genetics Consortium (IMSGC); Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF; Wellcome Trust Case Control Consortium 2 (WTCCC2); International IBD Genetics Consortium (IIBDGC); Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, Graetz C, Graham A, Grummel V, Guaschino C, Hadjixenofont… See abstract for full author list ➔ International Multiple Sclerosis Genetics Consortium (IMSGC), et al. Among authors: lie ba. Nat Genet. 2013 Nov;45(11):1353-60. doi: 10.1038/ng.2770. Epub 2013 Sep 29. Nat Genet. 2013. PMID: 24076602 Free PMC article.
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, Farber E, Bonnie JK, Szpak M, Schofield E, Achuthan P, Guo H, Fortune MD, Stevens H, Walker NM, Ward LD, Kundaje A, Kellis M, Daly MJ, Barrett JC, Cooper JD, Deloukas P; Type 1 Diabetes Genetics Consortium; Todd JA, Wallace C, Concannon P, Rich SS. Onengut-Gumuscu S, et al. Nat Genet. 2015 Apr;47(4):381-6. doi: 10.1038/ng.3245. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751624 Free PMC article.
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish Scleroderma Group; Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD. Radstake TR, et al. Among authors: lie ba. Nat Genet. 2010 May;42(5):426-9. doi: 10.1038/ng.565. Epub 2010 Apr 11. Nat Genet. 2010. PMID: 20383147 Free PMC article.
Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in the 1p13.2 region.
Martín JE, Alizadeh BZ, González-Gay MA, Balsa A, Pascual-Salcedo D, González-Escribano MF, Rodriguez-Rodriguez L, Fernández-Gutiérrez B, Raya E, Coenen MJ, van Riel P, Radstake TR, Kvien TK, Viken MK, Lie BA, Koeleman BP, Martín J. Martín JE, et al. Among authors: lie ba. J Rheumatol. 2011 Nov;38(11):2290-6. doi: 10.3899/jrheum.110361. Epub 2011 Oct 1. J Rheumatol. 2011. PMID: 21965649
Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.
Finkel TH, Li J, Wei Z, Wang W, Zhang H, Behrens EM, Reuschel EL, Limou S, Wise C, Punaro M, Becker ML, Munro JE, Flatø B, Førre Ø, Thompson SD, Langefeld CD, Glass DN, Glessner JT, Kim CE, Frackelton E, Shivers DK, Thomas KA, Chiavacci RM, Hou C, Xu K, Snyder J, Qiu H, Mentch F, Wang K, Winkler CA, Lie BA, Ellis JA, Hakonarson H. Finkel TH, et al. Among authors: lie ba. BMC Med Genet. 2016 Mar 22;17:24. doi: 10.1186/s12881-016-0285-3. BMC Med Genet. 2016. PMID: 27005825 Free PMC article.
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.
Carmona FD, Vaglio A, Mackie SL, Hernández-Rodríguez J, Monach PA, Castañeda S, Solans R, Morado IC, Narváez J, Ramentol-Sintas M, Pease CT, Dasgupta B, Watts R, Khalidi N, Langford CA, Ytterberg S, Boiardi L, Beretta L, Govoni M, Emmi G, Bonatti F, Cimmino MA, Witte T, Neumann T, Holle J, Schönau V, Sailler L, Papo T, Haroche J, Mahr A, Mouthon L, Molberg Ø, Diamantopoulos AP, Voskuyl A, Brouwer E, Daikeler T, Berger CT, Molloy ES, O'Neill L, Blockmans D, Lie BA, Mclaren P, Vyse TJ, Wijmenga C, Allanore Y, Koeleman BPC; Spanish CGA Group; UKGCA Consortium; Vasculitis Clinical Research Consortium; Barrett JH, Cid MC, Salvarani C, Merkel PA, Morgan AW, González-Gay MA, Martín J. Carmona FD, et al. Among authors: lie ba. Am J Hum Genet. 2017 Jan 5;100(1):64-74. doi: 10.1016/j.ajhg.2016.11.013. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041642 Free PMC article.
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