Professor Stephen Sawcer University positionProfessor Professor Stephen Sawcer is pleased to consider applications from prospective PhD students. DepartmentsDepartment of Clinical Neurosciences InstitutesHome pagehttp://www-gene.cimr.cam.ac.uk/MSgenet... Research ThemesInterestsMy group researches multiple sclerosis. We use genetic analysis to identify relevant variants and then attempt to understand the immunological and neurobiological consequences of these using expression studies and functional assays. As well as continuing efforts to identify variants influencing susceptibility we are also undertaking studies to identify the genetic factors influencing the clinical course of the disease and its response to treatment. Working in collaboration with the International Multiple Sclerosis Genetics Consortium (IMSGC, https://www.imsgenetics.org/) and the Wellcome Trust Case Control Consortium (WTCCC, http://www.wtccc.org.uk/) we have already identified over 100 variants associated with susceptibility. In parallel with our on-going genetic studies we are now also investigating how these variants influence gene expression in immune cells from the blood and the CSF, and undertaking functional assays to determine the effects of selected variants. Research Focus
EquipmentCell culture Chip based genotyping Cross-sectional and cohort studies Enzyme assays Fluorescence microscopy Magnetic resonance imaging (MRI) Sanger and Next Generation Sequencing TaqMan Real time PCR & Genotyping Collaborators
Associated News ItemsKey publicationsInternational 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 (2013), “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nat Genet 45(11):1353-60 Details International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Martinelli Boneschi F, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, (2011), “Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.” Nature 476(7359):214-9 Details Sawcer S, Ban M, Maranian M, Yeo TW, Compston A, Kirby A, Daly MJ, De Jager PL, Walsh E, Lander ES, Rioux JD, Hafler DA, Ivinson A, Rimmler J, Gregory SG, Schmidt S, Pericak-Vance MA, Akesson E, Hillert J, Datta P, Oturai A, Ryder LP, Harbo HF, Spurkland A, Myhr KM, Laaksonen M, Booth D, Heard R, Stewart G, Lincoln R, Barcellos LF, Hauser SL, Oksenberg JR, Kenealy SJ, Haines JL; for the International Multiple Sclerosis Genetics Consortium (2005), “A high-density screen for linkage in multiple sclerosis” Am J Hum Genet 77:454-67 Details Publications2014Fiddes B, Wason J, Sawcer S (2014), “Confounding in association studies: month of birth and multiple sclerosis.” J Neurol Details Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ, International Multiple Sclerosis Genetics Consortium, van Es M, Australia and New Zealand MS Genetics Consortium, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH, Shatunov A, Leigh N, Al-Chalabi A, Shaw CE, Traynor BJ, Chiò A, Restagno G, Mora G, Ophoff RA, Oksenberg JR, Van Damme P, Compston A, Robberecht W, Dubois B, van den Berg LH, De Jager PL, Veldink JH, de Bakker PI (2014), “No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.” Hum Mol Genet 23(7):1916-22 Details 2013Ban M, Caillier S, Mero IL, Myhr KM, Celius EG, Aarseth J, Torkildsen Ø, Harbo HF, Oksenberg J, Hauser SL, Sawcer S, Compston A (2013), “No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.” Ann Neurol 73(3):430-2 Details Fiddes B, Wason J, Kemppinen A, Ban M, Compston A, Sawcer S (2013), “Confounding underlies the apparent month of birth effect in multiple sclerosis.” Ann Neurol 73(6):714-20 Details Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SC, Jostins L, Kong Y, Lee JC, Lek M, Macarthur DG, Mansfield JC, Mathew CG, Mein CA, Mirza M, Nutland S, Onengut-Gumuscu S, Papouli E, Parkes M, Rich SS, Sawcer S, Satsangi J, Simmonds MJ, Trembath RC, Walker NM, Wozniak E, Todd JA, Simpson MA, Plagnol V, van Heel DA (2013), “Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.” Nature Details International Multiple Sclerosis Genetics Consortium (2013), “MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.” Brain 136(Pt 6):1778-82 Details International Multiple Sclerosis Genetics Consortium (2013), “Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls.” Am J Hum Genet Details Ismail A, Cooper-Knock J, Highley JR, Milano A, Kirby J, Goodall E, Lowe J, Scott I, Constantinescu CS, Walters SJ, Price S, McDermott CJ, Sawcer S, Compston DA, Sharrack B, Shaw PJ (2013), “Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.” J Neurol Neurosurg Psychiatry 84(1):79-87 Details LeishGEN Consortium, Wellcome Trust Case Control Consortium 2, Fakiola M, Strange A, Cordell HJ, Miller EN, Pirinen M, Su Z, Mishra A, Mehrotra S, Monteiro GR, Band G, Bellenguez C, Dronov S, Edkins S, Freeman C, Giannoulatou E, Gray E, Hunt SE, Lacerda HG, Langford C, Pearson R, Pontes NN, Rai M, Singh SP, Smith L, Sousa O, Vukcevic D, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Wilson ME, Deloukas P, Peltonen L, Christiansen F, Witt C, Jeronimo SM, Sundar S, Spencer CC, Blackwell JM, Donnelly P (2013), “Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.” Nat Genet 45(2):208-13 Details Mero IL, Gustavsen MW, Sæther HS, Flåm ST, Berg-Hansen P, Søndergaard HB, Jensen PE, Berge T, Bjølgerud A, Muggerud A, Aarseth JH, International Multiple Sclerosis Genetics Consortium, Myhr KM, Celius EG, Sellebjerg F, Hillert J, Alfredsson L, Olsson T, Oturai AB, Kockum I, Lie BA, Andreassen BK, Harbo HF (2013), “Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.” PLoS One 8(3):e58352 Details Patsopoulos NA, Barcellos LF, Hintzen RQ, Schaefer C, van Duijn CM, Noble JA, Raj T, IMSGC, ANZgene, Gourraud PA, Stranger BE, Oksenberg J, Olsson T, Taylor BV, Sawcer S, Hafler DA, Carrington M, De Jager PL, de Bakker PI (2013), “Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects.” PLoS Genet 9(11):e1003926 Details Winder-Rhodes SE, Evans JR, Ban M, Mason SL, Williams-Gray CH, Foltynie T, Duran R, Mencacci NE, Sawcer SJ, Barker RA (2013), “Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.” Brain 136(Pt 2):392-9 Details 2012Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Büning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zh (2012), “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 Details Roep BO, Buckner J, Sawcer S, Toes R, Zipp F (2012), “The problems and promises of research into human immunology and autoimmune disease.” Nat Med 18(1):48-53 Details Sawcer S, Wason J (2012), “Risk in complex genetics: "all models are wrong but some are useful".” Ann Neurol 72(4):502-9 Details Su Z, Gay LJ, Strange A, Palles C, Band G, Whiteman DC, Lescai F, Langford C, Nanji M, Edkins S, van der Winkel A, Levine D, Sasieni P, Bellenguez C, Howarth K, Freeman C, Trudgill N, Tucker AT, Pirinen M, Peppelenbosch MP, van der Laan LJ, Kuipers EJ, Drenth JP, Peters WH, Reynolds JV, Kelleher DP, McManus R, Grabsch H, Prenen H, Bisschops R, Krishnadath K, Siersema PD, van Baal JW, Middleton M, Petty R, Gillies R, Burch N, Bhandari P, Paterson S, Edwards C, Penman I, Vaidya K, Ang Y, Murray I, Patel P, Ye W, Mullins P, Wu AH, Bird NC, Dallal H, Shaheen NJ, Murray LJ, Koss K, Bernstein L, Romero Y, Hardie LJ, Zhang R, Winter H, Corley DA, Panter S, Risch HA, Reid BJ, Sargeant I, Gammon MD, Smart H, Dhar A, McMurtry H, Ali H, Liu G, Casson AG, Chow WH, Rutter M, Tawil A, Morris D, Nwokolo C, Isaacs P, Rodgers C, Ragunath K, MacDonald C, Haigh C, Monk D, Davies G, Wajed S, Johnston D, Gibbons M, Cullen S, Church N, Langley R, Griffin M, Alderson D, Deloukas P, Hunt SE, Gray E, Dronov S, Potter SC, Tashakkori- (2012), “Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.” Nat Genet 44(10):1131-6 Details 2011Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC, Bhaw-Rosun L, Bockett NA, Brand OJ, Brouwer E, Concannon P, Cooper JD, Dias KR, van Diemen CC, Dubois PC, Edkins S, Fölster-Holst R, Fransen K, Glass DN, Heap GA, Hofmann S, Huizinga TW, Hunt S, Langford C, Lee J, Mansfield J, Marrosu MG, Mathew CG, Mein CA, Müller-Quernheim J, Nutland S, Onengut-Gumuscu S, Ouwehand W, Pearce K, Prescott NJ, Posthumus MD, Potter S, Rosati G, Sambrook J, Satsangi J, Schreiber S, Shtir C, Simmonds MJ, Sudman M, Thompson SD, Toes R, Trynka G, Vyse TJ, Walker NM, Weidinger S, Zhernakova A, Zoledziewska M, Type 1 Diabetes Genetics Consortium, UK Inflammatory Bowel Disease (IBD) Genetics Consortium, Wellcome Trust Case Control Consortium, Weersma RK, Gough SC, Sawcer S, Wijmenga C, Parkes M, Cucca F, Franke A, Deloukas P, Rich SS, Todd JA, van Heel DA (2011), “Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.” Nat Genet 44(1):3-5 Details International Multiple Sclerosis Genetics Consortium (2011), “The genetic association of variants in CD6, TNFRSF1A and IRF8 to multiple sclerosis: a multicenter case-control study.” PLoS One 6(4):e18813 Details Kemppinen A, Sawcer S, Compston A (2011), “Genome-wide association studies in multiple sclerosis: lessons and future prospects.” Brief Funct Genomics 10(2):61-70 Details Patsopoulos NA, Bayer Pharma MS Genetics Working Group, Steering Committees of Studies Evaluating IFN?-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 (2011), “Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.” Ann Neurol 70(6):897-912 Details Sawcer S, Hellenthal G (2011), “The major histocompatibility complex and multiple sclerosis: a smoking gun?” Brain 134(Pt 3):638-40 Details 2010Ban M, McCauley JL, Zuvich R, Baker A, Bergamaschi L, Cox M, Kemppinen A, D'Alfonso S, Guerini FR, Lechner-Scott J, Dudbridge F, Wason J, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, Sexton D, Oksenberg JR, Hauser SL, Pericak-Vance MA, Haines J, Compston A, Sawcer S (2010), “A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis.” Genes Immun Details Cree BA, Rioux JD, McCauley JL, Gourraud PA, Goyette P, McElroy J, De Jager P, Santaniello A, Vyse TJ, Gregersen PK, Mirel D, Hafler DA, Haines JL, Pericak-Vance MA, Compston A, Sawcer SJ, Oksenberg JR, Hauser SL, IMAGEN, IMSGC (2010), “A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.” PLoS One 5(6):e11296 Details International Multiple Sclerosis Genetics Consortium (IMSGC) (2010), “Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.” Hum Mol Genet 19(5):953-62 Details International Multiple Sclerosis Genetics Consortium (IMSGC), Booth DR, Heard RN, Stewart GJ, Cox M, Scott RJ, Lechner-Scott J, Goris A, Dobosi R, Dubois B, Saarela J, Leppä V, Peltonen L, Pirttila T, Cournu-Rebeix I, Fontaine B, Bergamaschi L, D'Alfonso S, Leone M, Lorentzen AR, Harbo HF, Celius EG, Spurkland A, Link J, Kockum I, Olsson T, Hillert J, Ban M, Baker A, Kemppinen A, Sawcer S, Compston A, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, McCauley JL, Pericak-Vance MA, Oksenberg JR, Hauser SL, Sexton D, Haines J (2010), “Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.” Nat Genet 42(6):469-70; author reply 470-1 Details International Multiple Sclerosis Genetics Consortium (IMSGC), Bush WS, Sawcer SJ, de Jager PL, Oksenberg JR, McCauley JL, Pericak-Vance MA, Haines JL (2010), “Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come.” Am J Hum Genet 86(4):621-5 Details International Multiple Sclerosis Genetics Conssortium (IMSGC) (2010), “IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci.” Genes Immun 11(5):397-405 Details Sawcer S (2010), “Bayes factors in complex genetics.” Eur J Hum Genet 18(7):746-50 Details Sawcer S, Ban M, Wason J, Dudbridge F (2010), “What role for genetics in the prediction of multiple sclerosis?” Ann Neurol 67(1):3-10 Details Zuvich RL, McCauley JL, Oksenberg JR, Sawcer SJ, De Jager PL, International Multiple Sclerosis Genetics Consortium, Aubin C, Cross AH, Piccio L, Aggarwal NT, Evans D, Hafler DA, Compston A, Hauser SL, Pericak-Vance MA, Haines JL (2010), “Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility.” Hum Genet 127(5):525-35 Details 2009Ban M, Goris A, Lorentzen AR, Baker A, Mihalova T, Ingram G, Booth DR, Heard RN, Stewart GJ, Bogaert E, Dubois B, Harbo HF, Celius EG, Spurkland A, Strange R, Hawkins C, Robertson NP, Dudbridge F, Wason J, De Jager PL, Hafler D, Rioux JD, Ivinson AJ, McCauley JL, Pericak-Vance M, Oksenberg JR, Hauser SL, Sexton D, Haines J, Sawcer S, Wellcome Trust Case-Control Consortium (WTCCC), Compston A (2009), “Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor.” Eur J Hum Genet 17(10):1309-13 Details De Jager PL, Baecher-Allan C, Maier LM, Arthur AT, Ottoboni L, Barcellos L, McCauley JL, Sawcer S, Goris A, Saarela J, Yelensky R, Price A, Leppa V, Patterson N, de Bakker PI, Tran D, Aubin C, Pobywajlo S, Rossin E, Hu X, Ashley CW, Choy E, Rioux JD, Pericak-Vance MA, Ivinson A, Booth DR, Stewart GJ, Palotie A, Peltonen L, Dubois B, Haines JL, Weiner HL, Compston A, Hauser SL, Daly MJ, Reich D, Oksenberg JR, Hafler DA (2009), “The role of the CD58 locus in multiple sclerosis.” Proc Natl Acad Sci U S A 106(13):5264-9 Details De Jager PL, Jia X, Wang J, de Bakker PI, Ottoboni L, Aggarwal NT, Piccio L, Raychaudhuri S, Tran D, Aubin C, Briskin R, Romano S, International MS Genetics Consortium, Baranzini SE, McCauley JL, Pericak-Vance MA, Haines JL, Gibson RA, Naeglin Y, Uitdehaag B, Matthews PM, Kappos L, Polman C, McArdle WL, Strachan DP, Evans D, Cross AH, Daly MJ, Compston A, Sawcer SJ, Weiner HL, Hauser SL, Hafler DA, Oksenberg JR (2009), “Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.” Nat Genet 41(7):776-82 Details International MHC and Autoimmunity Genetics Network, Rioux JD, Goyette P, Vyse TJ, Hammarström L, Fernando MM, Green T, De Jager PL, Foisy S, Wang J, de Bakker PI, Leslie S, McVean G, Padyukov L, Alfredsson L, Annese V, Hafler DA, Pan-Hammarström Q, Matell R, Sawcer SJ, Compston AD, Cree BA, Mirel DB, Daly MJ, Behrens TW, Klareskog L, Gregersen PK, Oksenberg JR, Hauser SL (2009), “Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.” Proc Natl Acad Sci U S A 106(44):18680-5 Details International Multiple Sclerosis Genetics Consortium (IMSGC) (2009), “The expanding genetic overlap between multiple sclerosis and type I diabetes.” Genes Immun 10(1):11-4 Details Jones JL, Phuah CL, Cox AL, Thompson SA, Ban M, Shawcross J, Walton A, Sawcer SJ, Compston A, Coles AJ (2009), “IL-21 drives secondary autoimmunity in patients with multiple sclerosis, following therapeutic lymphocyte depletion with alemtuzumab (Campath-1H).” J Clin Invest 119(7):2052-61 Details Maier LM, Lowe CE, Cooper J, Downes K, Anderson DE, Severson C, Clark PM, Healy B, Walker N, Aubin C, Oksenberg JR, Hauser SL, Compston A, Sawcer S, International Multiple Sclerosis Genetics Consortium, De Jager PL, Wicker LS, Todd JA, Hafler DA (2009), “IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.” PLoS Genet 5(1):e1000322 Details 2008Ban M, Elson J, Walton A, Turnbull D, Compston A, Chinnery P, Sawcer S (2008), “Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.” PLoS One 3(8):e2891 Details Dean G, Yeo TW, Goris A, Taylor CJ, Goodman RS, Elian M, Galea-Debono A, Aquilina A, Felice A, Vella M, Sawcer S, Compston DA (2008), “HLA-DRB1 and multiple sclerosis in Malta.” Neurology 70(2):101-5 Details Horton R, Gibson R, Coggill P, Miretti M, Allcock RJ, Almeida J, Forbes S, Gilbert JG, Halls K, Harrow JL, Hart E, Howe K, Jackson DK, Palmer S, Roberts AN, Sims S, Stewart CA, Traherne JA, Trevanion S, Wilming L, Rogers J, de Jong PJ, Elliott JF, Sawcer S, Todd JA, Trowsdale J, Beck S (2008), “Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project.” Immunogenetics 60(1):1-18 Details International Multiple Sclerosis Genetics Consortium (IMSGC) (2008), “Refining genetic associations in multiple sclerosis.” Lancet Neurol 7(7):567-9 Details Oksenberg JR, Baranzini SE, Sawcer S, Hauser SL (2008), “The genetics of multiple sclerosis: SNPs to pathways to pathogenesis.” Nat Rev Genet 9(7):516-26 Details Sawcer S (2008), “The complex genetics of multiple sclerosis: pitfalls and prospects.” Brain 131(Pt 12):3118-31 Details 2007Goris A, Williams-Gray CH, Clark GR, Foltynie T, Lewis SJ, Brown J, Ban M, Spillantini MG, Compston A, Burn DJ, Chinnery PF, Barker RA, Sawcer SJ (2007), “Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease.” Ann Neurol 62(2):145-53 Details Gregory SG, Schmidt S, Seth P, Oksenberg JR, Hart J, Prokop A, Caillier SJ, Ban M, Goris A, Barcellos LF, Lincoln R, McCauley JL, Sawcer SJ, Compston DA, Dubois B, Hauser SL, Garcia-Blanco MA, Pericak-Vance MA, Haines JL, Multiple Sclerosis Genetics Group (2007), “Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis.” Nat Genet 39(9):1083-91 Details Hensiek AE, Seaman SR, Barcellos LF, Oturai A, Eraksoi M, Cocco E, Vecsei L, Stewart G, Dubois B, Bellman-Strobl J, Leone M, Andersen O, Bencsik K, Booth D, Celius EG, Harbo HF, Hauser SL, Heard R, Hillert J, Myhr KM, Marrosu MG, Oksenberg JR, Rajda C, Sawcer SJ, Sørensen PS, Zipp F, Compston DA (2007), “Familial effects on the clinical course of multiple sclerosis.” Neurology 68(5):376-83 Details International Multiple Sclerosis Genetics Consortium, Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B, Oksenberg JR, Hauser SL (2007), “Risk alleles for multiple sclerosis identified by a genomewide study.” N Engl J Med 357(9):851-62 Details Wellcome Trust Case Control Consortium (2007), “Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.” Nature 447(7145):661-78 Details Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium (TASC), Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H (2007), “Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.” Nat Genet 39(11):1329-37 Details Yeo TW, De Jager PL, Gregory SG, Barcellos LF, Walton A, Goris A, Fenoglio C, Ban M, Taylor CJ, Goodman RS, Walsh E, Wolfish CS, Horton R, Traherne J, Beck S, Trowsdale J, Caillier SJ, Ivinson AJ, Green T, Pobywajlo S, Lander ES, Pericak-Vance MA, Haines JL, Daly MJ, Oksenberg JR, Hauser SL, Compston A, Hafler DA, Rioux JD, Sawcer S (2007), “A second major histocompatibility complex susceptibility locus for multiple sclerosis.” Ann Neurol 61(3):228-36 Details 2006Barcellos LF, Sawcer S, Ramsay PP, Baranzini SE, Thomson G, Briggs F, Cree BC, Begovich AB, Villoslada P, Montalban X, Uccelli A, Savettieri G, Lincoln RR, DeLoa C, Haines JL, Pericak-Vance MA, Compston A, Hauser SL, Oksenberg JR (2006), “Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis.” Hum Mol Genet 15(18):2813-24 Details 1996Sawcer S, Jones HB, Feakes R, Gray J, Smaldon N, Chataway J, Robertson N, Clayton D, Goodfellow PN, Compston A (1996), “A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22.” Nat Genet 13(4):464-8 Details |