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Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

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Bahlo, Melanie; Booth, David; Broadley, Simon A; Brown, Matthew A; Foote, Simon; Griffiths, Lyn; Kilpatrick, Trevor J; Lechner-Scott, Jeanette; Moscato, Pablo Alberto; Perreau, Victoria M; Rubio, Justin P; Scott, Rodney; Stankovich, Jim; Stewart, Graeme; Taylor, Bruce; Wiley, James; Clarke, Gynnis; Cox, Mathew B; Csurhes, P A; Danoy, Patrick; Drysdale, Karen; Field, Judith; Greer, Judith M; Guru, Preethi; Hadler, Johanna S; McMorran, Brendan; Jensen, Cathy J

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To identify multiple sclerosis (MS) susceptibility loci, we conducted a genome-wide association study (GWAS) in 1,618 cases and used shared data for 3,413 controls. We performed replication in an independent set of 2,256 cases and 2,310 controls, for a total of 3,874 cases and 5,723 controls. We identified risk-associated SNPs on chromosome 12q13-14 (rs703842, P = 5.4 × 10 11; rs10876994, P = 2.7 × 10 10; rs12368653, P = 1.0 × 10 7) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 ×...[Show more]

dc.contributor.authorBahlo, Melanie
dc.contributor.authorBooth, David
dc.contributor.authorBroadley, Simon A
dc.contributor.authorBrown, Matthew A
dc.contributor.authorFoote, Simon
dc.contributor.authorGriffiths, Lyn
dc.contributor.authorKilpatrick, Trevor J
dc.contributor.authorLechner-Scott, Jeanette
dc.contributor.authorMoscato, Pablo Alberto
dc.contributor.authorPerreau, Victoria M
dc.contributor.authorRubio, Justin P
dc.contributor.authorScott, Rodney
dc.contributor.authorStankovich, Jim
dc.contributor.authorStewart, Graeme
dc.contributor.authorTaylor, Bruce
dc.contributor.authorWiley, James
dc.contributor.authorClarke, Gynnis
dc.contributor.authorCox, Mathew B
dc.contributor.authorCsurhes, P A
dc.contributor.authorDanoy, Patrick
dc.contributor.authorDrysdale, Karen
dc.contributor.authorField, Judith
dc.contributor.authorGreer, Judith M
dc.contributor.authorGuru, Preethi
dc.contributor.authorHadler, Johanna S
dc.contributor.authorMcMorran, Brendan
dc.contributor.authorJensen, Cathy J
dc.date.accessioned2016-02-24T22:40:42Z
dc.identifier.issn1061-4036
dc.identifier.urihttp://hdl.handle.net/1885/98414
dc.description.abstractTo identify multiple sclerosis (MS) susceptibility loci, we conducted a genome-wide association study (GWAS) in 1,618 cases and used shared data for 3,413 controls. We performed replication in an independent set of 2,256 cases and 2,310 controls, for a total of 3,874 cases and 5,723 controls. We identified risk-associated SNPs on chromosome 12q13-14 (rs703842, P = 5.4 × 10 11; rs10876994, P = 2.7 × 10 10; rs12368653, P = 1.0 × 10 7) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 × 10 7; rs1569723, P = 2.9 × 10 7). Both loci are also associated with other autoimmune diseases. We also replicated several known MS associations (HLA-DR15, P = 7.0 × 10 184; CD58, P = 9.6 × 10 8; EVI5-RPL5, P = 2.5 × 10 6; IL2RA, P = 7.4 × 10 6; CLEC16A, P = 1.1 × 10 4; IL7R, P = 1.3 × 10 3; TYK2, P = 3.5 × 10 3) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).
dc.publisherNature Publishing Group
dc.sourceNature Genetics
dc.subjectKeywords: CD40 antigen; HLA DR15 antigen; article; autoimmune disease; chromosome 12; chromosome 20; controlled study; gene locus; genetic susceptibility; human; major clinical study; multiple sclerosis; priority journal; single nucleotide polymorphism; Chromosomes
dc.titleGenome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
dc.typeJournal article
local.description.notesImported from ARIES
local.identifier.citationvolume41
dc.date.issued2009
local.identifier.absfor110311 - Medical Genetics (excl. Cancer Genetics)
local.identifier.absfor110803 - Medical Parasitology
local.identifier.absfor111203 - Cancer Genetics
local.identifier.ariespublicationa383154xPUB629
local.type.statusPublished Version
local.contributor.affiliationBahlo, Melanie, Walter and Eliza Hall Institute of Medical Research
local.contributor.affiliationBooth, David, The Westmead Millenium Institute, Westmead NSW
local.contributor.affiliationBroadley, Simon A, The Westmead Millenium Institute, Westmead NSW
local.contributor.affiliationBrown, Matthew A, University of Queensland
local.contributor.affiliationFoote, Simon, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationGriffiths, Lyn, Griffith University
local.contributor.affiliationKilpatrick, Trevor J, University of Melbourne
local.contributor.affiliationLechner-Scott, Jeanette, Hunter Medical Research Institute
local.contributor.affiliationMoscato, Pablo Alberto, University of Newcastle
local.contributor.affiliationPerreau, Victoria M, Centre for Neuroscience, University of Melbourne
local.contributor.affiliationRubio, Justin P, The Howard Florey Institute, University of Melbourne
local.contributor.affiliationScott, Rodney, University of Newcastle
local.contributor.affiliationStankovich, Jim, Menzies Research Institute Tasmania
local.contributor.affiliationStewart, Graeme, Westmead Millennium Institute
local.contributor.affiliationTaylor, Bruce, Menzies Research Institute
local.contributor.affiliationWiley, James, Department of Medicine, Napean Hospital
local.contributor.affiliationClarke, Gynnis, University of Otago
local.contributor.affiliationCox, Mathew B, Hunter Medical Research Institute
local.contributor.affiliationCsurhes, P A, University of Queensland
local.contributor.affiliationDanoy, Patrick, University of Queensland
local.contributor.affiliationDrysdale, Karen, The Menzies Research Institute of Tasmania
local.contributor.affiliationField, Judith, The Howard Florey Institute, University of Melbourne
local.contributor.affiliationGreer, Judith M, University of Queensland
local.contributor.affiliationGuru, Preethi, University of Tasmania
local.contributor.affiliationHadler, Johanna S, University of Queensland
local.contributor.affiliationMcMorran, Brendan, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationJensen, Cathy J, Howard Florey Institute
local.description.embargo2037-12-31
local.bibliographicCitation.issue7
local.bibliographicCitation.startpage824
local.bibliographicCitation.lastpage828
local.identifier.doi10.1038/ng.396
dc.date.updated2016-02-24T08:07:51Z
local.identifier.scopusID2-s2.0-67649881102
CollectionsANU Research Publications

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