Genetics of rheumatoid arthritis: GWAS and beyond

References

• WorthingtonJInvestigating the genetic basis of susceptibility to rheumatoid arthritisJ Autoimmun200525Suppl162016257177
   PubMed Web of Science ®Google Scholar
• YoungAKoduriGExtra-articular manifestations and complications of rheumatoid arthritisBest Pract Res Clin Rheumatol200721590792717870035
   PubMed Web of Science ®Google Scholar
• ScottDLWolfeFHuizingaTWRheumatoid arthritisLancet201037697461094110820870100
   PubMed Web of Science ®Google Scholar
• AlamanosYDrososAAEpidemiology of adult rheumatoid arthritisAutoimmun Rev20054313013615823498
   PubMed Web of Science ®Google Scholar
• ReginsterJYThe prevalence and burden of arthritisRheumatology (Oxford)200241Suppl 13612173279
   PubMed Web of Science ®Google Scholar
• DeightonCMWalkerDJThe familial nature of rheumatoid arthritisAnn Rheum Dis199150162651994873
   PubMed Web of Science ®Google Scholar
• WordsworthPBellJPolygenic susceptibility in rheumatoid arthritisAnn Rheum Dis19915063433462059076
   PubMed Web of Science ®Google Scholar
• JarvinenPAhoKTwin studies in rheumatic diseasesSemin Arthritis Rheum199424119287985034
   PubMed Web of Science ®Google Scholar
• SilmanAJMacGregorAJThomsonWTwin concordance rates for rheumatoid arthritis: results from a nationwide studyBr J Rheumatol199332109039078402000
   PubMedGoogle Scholar
• MacGregorAJSniederHRigbyASCharacterizing the quantitative genetic contribution to rheumatoid arthritis using data from twinsArthritis Rheum2000431303710643697
   PubMed Web of Science ®Google Scholar
• Van der LindenMPFeitsmaALle CessieSAssociation of a single-nucleotide polymorphism in CD40 with the rate of joint destruction in rheumatoid arthritisArthritis Rheum20096082242224719644859
   PubMed Web of Science ®Google Scholar
• StoltPBengtssonCNordmarkBQuantification of the influence of cigarette smoking on rheumatoid arthritis: results from a population based case-control study, using incident casesAnn Rheum Dis200362983584112922955
   PubMed Web of Science ®Google Scholar
• TobonGJYouinouPSarauxAThe environment, geo-epidemiology, and autoimmune disease: rheumatoid arthritisAutoimmun Rev201095A288A29219944780
   PubMed Web of Science ®Google Scholar
• SymmonsDPEnvironmental factors and the outcome of rheumatoid arthritisBest Pract Res Clin Rheumatol200317571772712915154
   PubMed Web of Science ®Google Scholar
• OliverJESilmanAJRisk factors for the development of rheumatoid arthritisScand J Rheumatol200635316917416766362
   PubMed Web of Science ®Google Scholar
• StahlEARaychaudhuriSRemmersEFGenome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lociNat Genet201042650851420453842
   PubMed Web of Science ®Google Scholar
• MorganAWRobinsonJIConaghanPGEvaluation of the rheumatoid arthritis susceptibility loci HLA-DRB1, PTPN22, OLIG3/TNFAIP3, STAT4 and TRAF1/C5 in an inception cohortArthritis Res Ther2010122R5720353580
   PubMed Web of Science ®Google Scholar
• StastnyPAssociation of the B-cell alloantigen DRw4 with rheumatoid arthritisN Engl J Med197829816869871147420
   PubMed Web of Science ®Google Scholar
• GregersenPKSilverJWinchesterRJThe shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritisArthritis Rheum19873011120512132446635
   PubMed Web of Science ®Google Scholar
• FernandoMMStevensCRWalshECDefining the role of the MHC in autoimmunity: a review and pooled analysisPLoS Genet200844e100002418437207
   PubMed Web of Science ®Google Scholar
• LeeHSLeeATCriswellLASeveral regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locusMol Med2008145–629330018309376
   PubMed Web of Science ®Google Scholar
• RaychaudhuriSRecent advances in the genetics of rheumatoid arthritisCurr Opin Rheumatol201022210911820075733
   PubMed Web of Science ®Google Scholar
• DingBPadyukovLLundstromEDifferent patterns of associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in the extended major histocompatibility complex regionArthritis Rheum2009601303819116921
   PubMed Web of Science ®Google Scholar
• MichouLCroiseauPPetit-TeixeiraEValidation of the reshaped shared epitope HLA-DRB1 classification in rheumatoid arthritisArthritis Res Ther200683R7916646982
   PubMed Web of Science ®Google Scholar
• BottiniNMusumeciLAlonsoAA functional variant of lymphoid tyrosine phosphatase is associated with type I diabetesNat Genet200436433733815004560
   PubMed Web of Science ®Google Scholar
• BegovichABCarltonVEHonigbergLAA missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritisAm J Hum Genet200475233033715208781
   PubMed Web of Science ®Google Scholar
• FaragoBTalianGCKomlosiKProtein tyrosine phosphatase gene C1858T allele confers risk for rheumatoid arthritis in Hungarian subjectsRheumatol Int200929779379619034456
   PubMed Web of Science ®Google Scholar
• KokkonenHJohanssonMInnalaLJidellERantapaa-DahlqvistSThe PTPN22 1858C/T polymorphism is associated with anti-cyclic citrullinated peptide antibody-positive early rheumatoid arthritis in northern SwedenArthritis Res Ther200793R5617553139
   PubMed Web of Science ®Google Scholar
• PiererMKaltenhauserSArnoldSAssociation of PTPN22 1858 single-nucleotide polymorphism with rheumatoid arthritis in a German cohort: higher frequency of the risk allele in male compared to female patientsArthritis Res Ther200683R7516635271
   PubMed Web of Science ®Google Scholar
• PlengeRMPadyukovLRemmersEFReplication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4Am J Hum Genet20057761044106016380915
   PubMed Web of Science ®Google Scholar
• SimkinsHMMerrimanMEHightonJAssociation of the PTPN22 locus with rheumatoid arthritis in a New Zealand Caucasian cohortArthritis Rheum20055272222222515986352
   PubMed Web of Science ®Google Scholar
• VikenMKOlssonMFlamSTThe PTPN22 promoter polymorphism −1123G > C association cannot be distinguished from the 1858C > T association in a Norwegian rheumatoid arthritis materialTissue Antigens200770319019717661906
   PubMedGoogle Scholar
• WesolyJHuXThabetMMThe 620W allele is the PTPN22 genetic variant conferring susceptibility to RA in a Dutch populationRheumatology (Oxford)200746461762117135225
   PubMed Web of Science ®Google Scholar
• ZhernakovaAEerlighPWijmengaCBarreraPRoepBOKoelemanBPDifferential association of the PTPN22 coding variant with autoimmune diseases in a Dutch populationGenes Immun20056645946115875058
   PubMed Web of Science ®Google Scholar
• ChelalaCDuchateletSJoffretMLPTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traitsDiabetes200756252252617259401
   PubMed Web of Science ®Google Scholar
• ChungSACriswellLAPTPN22: its role in SLE and autoimmunityAutoimmunity200740858259018075792
   PubMed Web of Science ®Google Scholar
• CriswellLAPfeifferKALumRFAnalysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypesAm J Hum Genet200576456157115719322
   PubMed Web of Science ®Google Scholar
• HinksAWorthingtonJThomsonWThe association of PTPN22 with rheumatoid arthritis and juvenile idiopathic arthritisRheumatology (Oxford)200645436536816418195
   PubMed Web of Science ®Google Scholar
• OrozcoGSanchezEGonzalez-GayMAAssociation of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosusArthritis Rheum200552121922415641066
   PubMed Web of Science ®Google Scholar
• KochiYSuzukiAYamadaRYamamotoKGenetics of rheumatoid arthritis: underlying evidence of ethnic differencesJ Autoimmun2009323–415816219324521
   PubMed Web of Science ®Google Scholar
• VangTCongiaMMacisMDAutoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variantNat Genet200537121317131916273109
   PubMed Web of Science ®Google Scholar
• KormanBDKastnerDLGregersenPKRemmersEFSTAT4: genetics, mechanisms, and implications for autoimmunityCurr Allergy Asthma Rep20088539840318682104
   PubMed Web of Science ®Google Scholar
• LeeHSRemmersEFLeJMKastnerDLBaeSCGregersenPKAssociation of STAT4 with rheumatoid arthritis in the Korean populationMol Med2007139–1045546017932559
   PubMed Web of Science ®Google Scholar
• KobayashiSIkariKKanekoHAssociation of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese populationArthritis Rheum20085871940194618576330
   PubMed Web of Science ®Google Scholar
• MartinezAVaradeJMarquezAAssociation of the STAT4 gene with increased susceptibility for some immune-mediated diseasesArthritis Rheum20085892598260218759272
   PubMed Web of Science ®Google Scholar
• ZervouMIMamoulakisDPanierakisCBoumpasDTGoulielmosGNSTAT4: a risk factor for type 1 diabetes?Hum Immunol2008691064765018703106
   PubMed Web of Science ®Google Scholar
• WursterALTanakaTGrusbyMJThe biology of Stat4 and Stat6Oncogene200019212577258410851056
   PubMed Web of Science ®Google Scholar
• KannanKOrtmannRAKimpelDAnimal models of rheumatoid arthritis and their relevance to human diseasePathophysiology200512316718116171986
   PubMedGoogle Scholar
• RischNMerikangasKThe future of genetic studies of complex human diseasesScience19962735281151615178801636
   PubMed Web of Science ®Google Scholar
• ZhuMZhaoSCandidate gene identification approach: progress and challengesInt J Biol Sci20073742042717998950
   PubMed Web of Science ®Google Scholar
• LanderESLintonLMBirrenBInitial sequencing and analysis of the human genomeNature2001409682286092111237011
   PubMed Web of Science ®Google Scholar
• International HapMap ConsortiumA haplotype map of the human genomeNature200543770631299132016255080
   PubMed Web of Science ®Google Scholar
• ReichDELanderESOn the allelic spectrum of human diseaseTrends Genet200117950251011525833
   PubMed Web of Science ®Google Scholar
• PritchardJKCoxNJThe allelic architecture of human disease genes: common disease-common variant … or not?Hum Mol Genet200211202417242312351577
   PubMed Web of Science ®Google Scholar
• HindorffLAJunkinsHAHallPNMehtaJPManolioTAA catalog of published genome-wide association studies12122010 Available at: http://www.genome.gov/gwastudies/Accessed April 21, 2011
   Google Scholar
• Wellcome Trust Case Control ConsortiumGenome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controlsNature2007447714566167817554300
   PubMed Web of Science ®Google Scholar
• ThomsonWBartonAKeXRheumatoid arthritis association at 6q23Nat Genet200739121431143317982455
   PubMed Web of Science ®Google Scholar
• PlengeRMCotsapasCDaviesLTwo independent alleles at 6q23 associated with risk of rheumatoid arthritisNat Genet200739121477148217982456
   PubMed Web of Science ®Google Scholar
• OrozcoGHinksAEyreSCombined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23Hum Mol Genet200918142693269919417005
   PubMed Web of Science ®Google Scholar
• CoornaertBCarpentierIBeyaertRA20: central gatekeeper in inflammation and immunityJ Biol Chem2009284138217822119008218
   PubMed Web of Science ®Google Scholar
• VereeckeLBeyaertRvanLGThe ubiquitin-editing enzyme A20 (TNFAIP3) is a central regulator of immunopathologyTrends Immunol200930838339119643665
   PubMed Web of Science ®Google Scholar
• BrownKDClaudioESiebenlistUThe roles of the classical and alternative nuclear factor-kappaB pathways: potential implications for autoimmunity and rheumatoid arthritisArthritis Res Ther200810421218771589
   PubMed Web of Science ®Google Scholar
• LeeEGBooneDLChaiSFailure to regulate TNF-induced NF-kappaB and cell death responses in A20-deficient miceScience200028954882350235411009421
   PubMed Web of Science ®Google Scholar
• ElsbyLMOrozcoGDentonJWorthingtonJRayDWDonnRPFunctional evaluation of TNFAIP3 (A20) in rheumatoid arthritisClin Exp Rheumatol201028570871420822710
   PubMed Web of Science ®Google Scholar
• KochiYOkadaYSuzukiAA regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibilityNat Genet201042651551920453841
   PubMed Web of Science ®Google Scholar
• JuliaABallinaJCaneteJDGenome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibilityArthritis Rheum20085882275228618668548
   PubMed Web of Science ®Google Scholar
• GregersenPKAmosCILeeATREL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritisNat Genet200941782082319503088
   PubMed Web of Science ®Google Scholar
• PlengeRMSeielstadMPadyukovLTRAF1-C5 as a risk locus for rheumatoid arthritis – a genomewide studyN Engl J Med2007357121199120917804836
   PubMed Web of Science ®Google Scholar
• EyreSHinksAFlynnEConfirmation of association of the REL locus with rheumatoid arthritis susceptibility in the UK populationAnn Rheum Dis20106981572157319945995
   PubMed Web of Science ®Google Scholar
• SpencerCCSuZDonnellyPMarchiniJDesigning genome-wide association studies: sample size, power, imputation, and the choice of genotyping chipPLoS Genet200955e100047719492015
   PubMed Web of Science ®Google Scholar
• RaychaudhuriSRemmersEFLeeATCommon variants at CD40 and other loci confer risk of rheumatoid arthritisNat Genet200840101216122318794853
   PubMed Web of Science ®Google Scholar
• OrozcoGEyreSHinksAAssociation of CD40 with rheumatoid arthritis confirmed in a large UK case-control studyAnn Rheum Dis201069581381619435719
   PubMed Web of Science ®Google Scholar
• TomerYConcepcionEGreenbergDAA C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves’ diseaseThyroid200212121129113512593727
   PubMed Web of Science ®Google Scholar
• KimTYParkYJHwangJKA C/T polymorphism in the 5′-untranslated region of the CD40 gene is associated with Graves’ disease in KoreansThyroid2003131091992514611700
   PubMed Web of Science ®Google Scholar
• MukaiTHiromatsuYFukutaniTA C/T polymorphism in the 5′ untranslated region of the CD40 gene is associated with later onset of Graves’ disease in JapaneseEndocr J200552447147716127217
   PubMed Web of Science ®Google Scholar
• Australia and New Zealand Multiple Sclerosis Genetics ConsortiumGenome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20Nat Genet200941782482819525955
   PubMed Web of Science ®Google Scholar
• ToddJAWalkerNMCooperJDRobust associations of four new chromosome regions from genome-wide analyses of type 1 diabetesNat Genet200739785786417554260
   PubMed Web of Science ®Google Scholar
• Van HeelDAFrankeLHuntKAA genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21Nat Genet200739782782917558408
   PubMed Web of Science ®Google Scholar
• ZhernakovaAAlizadehBZBevovaMNovel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseasesAm J Hum Genet20078161284128817999365
   PubMed Web of Science ®Google Scholar
• FestenEAGoyettePScottRGenetic variants in the region harbouring IL2/IL21 associated with ulcerative colitisGut200958679980419201773
   PubMed Web of Science ®Google Scholar
• AlbersHMKurreemanFAStoeken-RijsbergenGAssociation of the autoimmunity locus 4q27 with juvenile idiopathic arthritisArthritis Rheum200960390190419248117
   PubMed Web of Science ®Google Scholar
• LiuYHelmsCLiaoWA genome-wide association study of psoriasis and psoriatic arthritis identifies new disease lociPLoS Genet200843e100004118369459
   PubMed Web of Science ®Google Scholar
• MarquezAOrozcoGMartinezANovel association of the interleukin 2-interleukin 21 region with inflammatory bowel diseaseAm J Gastroenterol200910481968197519471255
   PubMed Web of Science ®Google Scholar
• MalekTRThe biology of interleukin-2Annu Rev Immunol20082645347918062768
   PubMed Web of Science ®Google Scholar
• YoungDAHegenMMaHLBlockade of the interleukin-21/interleukin-21 receptor pathway ameliorates disease in animal models of rheumatoid arthritisArthritis Rheum20075641152116317393408
   PubMed Web of Science ®Google Scholar
• RaychaudhuriSPlengeRMRossinEJIdentifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletionsPLoS Genet200956e100053419557189
   PubMed Web of Science ®Google Scholar
• RaychaudhuriSThomsonBPRemmersEFGenetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis riskNat Genet200941121313131819898481
   PubMed Web of Science ®Google Scholar
• OrozcoGBarrettJCZegginiESynthetic associations in the context of genome-wide association scan signalsHum Mol Genet201019R2R137R14420805105
   PubMed Web of Science ®Google Scholar
• HuffmeierUBergboerJGBeckerTReplication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factorsJ Invest Dermatol2010130497998420016497
   PubMed Web of Science ®Google Scholar
• MamtaniMRovinBBreyRCCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosusAnn Rheum Dis20086781076108317971457
   PubMed Web of Science ®Google Scholar
• McKinneyCMerrimanMEChapmanPTEvidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritisAnn Rheum Dis200867340941317604289
   PubMed Web of Science ®Google Scholar
• McCarrollSAHuettAKuballaPDeletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn’s diseaseNat Genet20084091107111219165925
   PubMed Web of Science ®Google Scholar
• GraysonBLSmithMEThomasJWGenome-wide analysis of copy number variation in type 1 diabetesPLoS One2010511e1539321085585
   PubMed Web of Science ®Google Scholar
• CraddockNHurlesMECardinNGenome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controlsNature2010464728971372020360734
   PubMed Web of Science ®Google Scholar
• DurbinRMAbecasisGRAltshulerDLA map of human genome variation from population-scale sequencingNature201046773191061107320981092
   PubMed Web of Science ®Google Scholar
• MahdiHFisherBAKallbergHSpecific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritisNat Genet200941121319132419898480
   PubMed Web of Science ®Google Scholar
• ThomasDMethods for investigating gene-environment interactions in candidate pathway and genome-wide association studiesAnnu Rev Public Health201031213620070199
   PubMed Web of Science ®Google Scholar
• AletahaDNeogiTSilmanAJ2010 rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiativeArthritis Rheum20106292569258120872595
   PubMed Web of Science ®Google Scholar
• WeyandCMKlimiukPAGoronzyJJHeterogeneity of rheumatoid arthritis: from phenotypes to genotypesSpringer Semin Immunopathol1998201–25229836366
   PubMed Web of Science ®Google Scholar
• BerglinEPadyukovLSundinUA combination of autoantibodies to cyclic citrullinated peptide (CCP) and HLA-DRB1 locus antigens is strongly associated with future onset of rheumatoid arthritisArthritis Res Ther200464R303R30815225365
   PubMed Web of Science ®Google Scholar
• Van derWDHuizingaTWEvery shared epitope allele for itself?Nat Rev Rheumatol20095947747819710670
   PubMed Web of Science ®Google Scholar
• PadyukovLSeielstadMOngRTA genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritisAnn Rheum Dis201070225926521156761
   PubMed Web of Science ®Google Scholar
• van derWDHouwing-DuistermaatJJToesREQuantitative heritability of anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritisArthritis Rheum200960491692319333951
   PubMed Web of Science ®Google Scholar
• PlominRHaworthCMDavisOSCommon disorders are quantitative traitsNat Rev Genet2009101287282819859063
   PubMed Web of Science ®Google Scholar
• KochiYSuzukiAYamadaRYamamotoKEthnogenetic heterogeneity of rheumatoid arthritis-implications for pathogenesisNat Rev Rheumatol20106529029520234359
   PubMed Web of Science ®Google Scholar
• SuzukiAYamadaRChangXFunctional haplotypes of PADI4, encoding citrullinating enzyme peptidylargininedeiminase 4, are associated with rheumatoid arthritisNat Genet200334439540212833157
   PubMed Web of Science ®Google Scholar
• IkariKKuwaharaMNakamuraTAssociation between PADI4 and rheumatoid arthritis: a replication studyArthritis Rheum200552103054305716200584
   PubMed Web of Science ®Google Scholar
• KangCPLeeHSJuHChoHKangCBaeSCA functional haplotype of the PADI4 gene associated with increased rheumatoid arthritis susceptibility in KoreansArthritis Rheum2006541909616385500
   PubMed Web of Science ®Google Scholar
• BurrMLNaseemHHinksAPADI4 genotype is not associated with rheumatoid arthritis in a large UK Caucasian populationAnn Rheum Dis201069466667019470526
   PubMed Web of Science ®Google Scholar
• BartonABowesJEyreSA functional haplotype of the PADI4 gene associated with rheumatoid arthritis in a Japanese population is not associated in a United Kingdom populationArthritis Rheum20045041117112115077293
   PubMed Web of Science ®Google Scholar
• IwamotoTIkariKNakamuraTAssociation between PADI4 and rheumatoid arthritis: a meta-analysisRheumatology (Oxford)200645780480716449362
   PubMed Web of Science ®Google Scholar
• AlamanosYVoulgariPVDrososAAIncidence and prevalence of rheumatoid arthritis, based on the 1987 American College of Rheumatology criteria: a systematic reviewSemin Arthritis Rheum200636318218817045630
   PubMed Web of Science ®Google Scholar
• BrandOGoughSHewardJHLA, CTLA-4 and PTPN22: the shared genetic master-key to autoimmunity?Expert Rev Mol Med2005723115
   PubMedGoogle Scholar
• DieudePGuedjMWipffJThe PTPN22 620W allele confers susceptibility to systemic sclerosis: findings of a large case-control study of European Caucasians and a meta-analysisArthritis Rheum20085872183218818576360
   PubMed Web of Science ®Google Scholar
• VangTMileticAVBottiniNMustelinTProtein tyrosine phosphatase PTPN22 in human autoimmunityAutoimmunity200740645346117729039
   PubMed Web of Science ®Google Scholar
• DahaNAKurreemanFAMarquesRBConfirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritisArthritis Rheum20096051255126019404967
   PubMed Web of Science ®Google Scholar
• GlasJSeidererJNagyMEvidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn’s disease and early disease onsetPLoS One201054e1037320454450
   PubMed Web of Science ®Google Scholar
• LeeYHWooJHChoiSJJiJDSongGGAssociation between the rs7574865 polymorphism of STAT4 and rheumatoid arthritis: a meta-analysisRheumatol Int201030566166619588142
   PubMed Web of Science ®Google Scholar
• MoonCMCheonJHKimSWAssociation of signal transducer and activator of transcription 4 genetic variants with extra-intestinal manifestations in inflammatory bowel diseaseLife Sci20108617–1866166720176035
   PubMed Web of Science ®Google Scholar
• PrahaladSHansenSWhitingAVariants in TNFAIP3, STAT4, and C12 or f30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritisArthritis Rheum20096072124213019565500
   PubMed Web of Science ®Google Scholar
• RemmersEFPlengeRMLeeATSTAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosusN Engl J Med20073571097798617804842
   PubMed Web of Science ®Google Scholar
• ZhernakovaAEerlighPBarreraPCTLA4 is differentially associated with autoimmune diseases in the Dutch populationHum Genet20051181586616025348
   PubMed Web of Science ®Google Scholar
• ZhaoSXPanCMCaoHMAssociation of the CTLA4 gene with Graves’ disease in the Chinese Han populationPLoS One201053e982120352109
   PubMed Web of Science ®Google Scholar
• LesterSDownie-DoyleSRischmuellerMCTLA4 polymorphism and primary Sjogren’s syndromeArthritis Res Ther20079340117559691
   PubMed Web of Science ®Google Scholar
• EinarsdottirESoderstromILofgren-BurstromAThe CTLA4 region as a general autoimmunity factor: an extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto’s thyroiditis and Graves’ diseaseEur J Hum Genet2003111818412529710
   PubMed Web of Science ®Google Scholar
• ChistiakovDATurakulovRICTLA-4 and its role in autoimmune thyroid diseaseJ Mol Endocrinol2003311213612914522
   PubMed Web of Science ®Google Scholar
• AyadiHHadjKHRebaiAFaridNRThe genetics of autoimmune thyroid diseaseTrends Endocrinol Metab200415523423915223054
   PubMed Web of Science ®Google Scholar
• BanYTomerYGenetic susceptibility in thyroid autoimmunityPediatr Endocrinol Rev200531203216369210
   PubMedGoogle Scholar
• DengYTsaoBPGenetic susceptibility to systemic lupus erythematosus in the genomic eraNat Rev Rheumatol201061268369221060334
   PubMed Web of Science ®Google Scholar
• HolmesSFrieseMASieboldCJonesEYBellJFuggerLMultiple sclerosis: MHC associations and therapeutic implicationsExpert Rev Mol Med200573117
   Google Scholar
• IwasaKKato-MotozakiYFurukawaYUp-regulation of MHC class I and class II in the skeletal muscles of myasthenia gravisJ Neuroimmunol20102251–217117420546939
   PubMed Web of Science ®Google Scholar
• LoiseauPLepageVDjelalFHLA class I and class II are both associated with the genetic predisposition to primary Sjogren syndromeHum Immunol200162772573111423179
   PubMed Web of Science ®Google Scholar
• PenderMPGreerJMImmunology of multiple sclerosisCurr Allergy Asthma Rep20077428529217547851
   PubMed Web of Science ®Google Scholar
• RiouxJDGoyettePVyseTJMapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseasesProc Natl Acad Sci U S A200910644186801868519846760
   PubMed Web of Science ®Google Scholar
• ThomasGPBrownMAGenetics and genomics of ankylosing spondylitisImmunol Rev2010233116218020192999
   PubMed Web of Science ®Google Scholar
• WatermanMXuWStempakJMDistinct and overlapping genetic loci in crohn’s disease and ulcerative colitis: correlations with pathogenesisInflamm Bowel Dis20101210 Epub ahead of print
   Web of Science ®Google Scholar
• DieudePGuedjMWipffJAssociation of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian populationAnn Rheum Dis201069111958196420511617
   PubMed Web of Science ®Google Scholar
• EyreSHinksABowesJOverlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac diseaseArthritis Res Ther2010125R17520854658
   PubMed Web of Science ®Google Scholar
• FungEYSmythDJHowsonJMAnalysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locusGenes Immun200910218819119110536
   PubMed Web of Science ®Google Scholar
• ZhernakovaAvan DiemenCCWijmengaCDetecting shared pathogenesis from the shared genetics of immune-related diseasesNat Rev Genet2009101435519092835
   PubMed Web of Science ®Google Scholar
• NishimotoKKochiYIkariKAssociation study of TRAF1-C5 polymorphisms with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in JapaneseAnn Rheum Dis201069236837319336421
   PubMed Web of Science ®Google Scholar
• KurreemanFAGoulielmosGNAlizadehBZThe TRAF1-C5 region on chromosome 9q33 is associated with multiple autoimmune diseasesAnn Rheum Dis201069469669919433411
   PubMed Web of Science ®Google Scholar
• HinksAEyreSKeXOverlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritisAnn Rheum Dis20106961049105319674979
   PubMed Web of Science ®Google Scholar
• BehrensEMFinkelTHBradfieldJPAssociation of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritisArthritis Rheum20085872206220718576341
   PubMed Web of Science ®Google Scholar
• MaierLMLoweCECooperJIL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor productionPLoS Genet200951e100032219119414
   PubMed Web of Science ®Google Scholar
• BrandOJLoweCEHewardJMAssociation of the interleukin-2 receptor alpha (IL-2R alpha)/CD25 gene region with Graves’ disease using a multilocus test and tag SNPsClin Endocrinol (Oxf)200766450851217371467
   PubMed Web of Science ®Google Scholar
• Blanco-KellyFMatesanzFAlcinaACD40: novel association with Crohn’s disease and replication in multiple sclerosis susceptibilityPLoS One201057e1152020634952
   PubMed Web of Science ®Google Scholar
• WangKBaldassanoRZhangHComparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effectsHum Mol Genet201019102059206720176734
   PubMed Web of Science ®Google Scholar
• ParkJHWacholderSGailMHEstimation of effect size distribution from genome-wide association studies and implications for future discoveriesNat Genet201042757057520562874
   PubMed Web of Science ®Google Scholar
• CortesABrownMAPromise and pitfalls of the ImmunochipArthritis Res Ther201113110121345260
   PubMed Web of Science ®Google Scholar
• MartinPBartonAEyreSASSIMILATOR: a new tool to inform selection of associated genetic variants for functional studiesBioinformatics201127114414621177990
   PubMed Web of Science ®Google Scholar
• NicolaeDLGamazonEZhangWDuanSDolanMECoxNJTrait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWASPLoS Genet201064e100088820369019
   PubMed Web of Science ®Google Scholar
• MoffattMFKabeschMLiangLGenetic variants regulating ORMDL3 expression contribute to the risk of childhood asthmaNature2007448715247047317611496
   PubMed Web of Science ®Google Scholar
• GeBPokholokDKKwanTGlobal patterns of cis variation in human cells revealed by high-density allelic expression analysisNat Genet200941111216122219838192
   PubMed Web of Science ®Google Scholar