HuGE Navigator: Genopedia. [http://hugenavigator.net/HuGENavigator/startPagePedia.do]
Sigurdsson S, Nordmark G, Göring HH, Lindroos K, Wiman AC, Sturfelt G, Jönsen A, Rantapää-Dahlqvist S, Möller B, Kere J, Koskenmies S, Widén E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Rönnblom L, Syvänen AC: Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet. 2005, 76: 528-537. 10.1086/428480.
Article
PubMed Central
CAS
PubMed
Google Scholar
Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, González Escribano MF, Argentine and Spanish Collaborative Groups, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martín J, Altshuler D, Behrens TW, Alarcón-Riquelme ME: A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet. 2006, 38: 550-555. 10.1038/ng1782.
Article
CAS
PubMed
Google Scholar
Cunninghame Graham DS, Manku H, Wagner S, Reid J, Timms K, Gutin A, Lanchbury JS, Vyse TJ: Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation. Hum Mol Genet. 2007, 16: 579-591.
Article
CAS
PubMed
Google Scholar
Ferreiro-Neira I, Calaza M, Alonso-Perez E, Marchini M, Scorza R, Sebastiani GD, Blanco FJ, Rego I, Pullmann R, Pullmann R, Kallenberg CG, Bijl M, Skopouli FN, Mavromati M, Migliaresi S, Barizzone N, Ruzickova S, Dostal C, Schmidt RE, Witte T, Papasteriades C, Kappou-Rigatou I, Endreffy E, Kovacs A, Ordi-Ros J, Balada E, Carreira P, Gomez-Reino JJ, Gonzalez A: Opposed independent effects and epistasis in the complex association of IRF5 to SLE. Genes Immun. 2007, 8: 429-438. 10.1038/sj.gene.6364407.
Article
CAS
PubMed
Google Scholar
Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, Hom G, Bauer JW, Gillett C, Burtt N, Cunninghame Graham DS, Onofrio R, Petri M, Gunnarsson I, Svenungsson E, Rönnblom L, Nordmark G, Gregersen PK, Moser K, Gaffney PM, Criswell LA, Vyse TJ, Syvänen AC, Bohjanen PR, Daly MJ, Behrens TW, Altshuler D: Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci USA. 2007, 104: 6758-6763. 10.1073/pnas.0701266104.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kozyrev SV, Lewén S, Reddy PM, Pons-Estel B, Argentine Collaborative Group, Witte T, German Collaborative Group, Junker P, Laustrup H, Gutiérrez C, Suárez A, González-Escribano F, Martín J, Spanish Collaborative Group, Alarcón-Riquelme ME: Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus. Arthritis Rheum. 2007, 56: 1234-1241. 10.1002/art.22497.
Article
CAS
PubMed
Google Scholar
Niewold TB, Kelly JA, Flesch MH, Espinoza LR, Harley JB, Crow MK: Association of the IRF5 risk haplotype with high serum interferon-α activity in systemic lupus erythematosus patients. Arthritis Rheum. 2008, 58: 2481-2487. 10.1002/art.23613.
Article
PubMed Central
CAS
PubMed
Google Scholar
Niewold TB, Kelly JA, Kariuki SN, Franek BS, Kumar AA, Kaufman KM, Thomas K, Walker D, Kamp S, Frost JM, Wong AK, Merrill JT, Alarcón-Riquelme ME, Tikly M, Ramsey-Goldman R, Reveille JD, Petri MA, Edberg JC, Kimberly RP, Alarcón GS, Kamen DL, Gilkeson GS, Vyse TJ, James JA, Gaffney PM, Moser KL, Crow MK, Harley JB: IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon α activity and explain the majority of the genetic association with systemic lupus erythematosus. Ann Rheum Dis. 2012, 71: 463-468. 10.1136/annrheumdis-2011-200463.
Article
PubMed Central
CAS
PubMed
Google Scholar
Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, Louis E, Wiman AC, Vermeire S, Rutgeerts P, Belaiche J, Franchimont D, Van Gossum A, Bours V, Syvänen AC: An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Hum Mol Genet. 2007, 16: 3008-3016. 10.1093/hmg/ddm259.
Article
CAS
PubMed
Google Scholar
Sigurdsson S, Göring HH, Kristjansdottir G, Milani L, Nordmark G, Sandling JK, Eloranta ML, Feng D, Sangster-Guity N, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Barnes BJ, Alm G, Rönnblom L, Syvänen AC: Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus. Hum Mol Genet. 2008, 17: 872-881.
Article
CAS
PubMed
Google Scholar
Alonso-Perez E, Suarez-Gestal M, Calaza M, Kwan T, Majewski J, Gomez-Reino JJ, Gonzalez A: Cis-regulation of IRF5 expression is unable to fully account for systemic lupus erythematosus association: analysis of multiple experiments with lymphoblastoid cell lines. Arthritis Res Ther. 2011, 13: R80-10.1186/ar3343.
Article
PubMed Central
CAS
PubMed
Google Scholar
Löfgren SE, Yin H, Delgado-Vega AM, Sanchez E, Lewén S, Pons-Estel BA, Witte T, D'Alfonso S, Ortego-Centeno N, Martin J, Alarcón-Riquelme ME, Kozyrev SV: Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells. J Rheumatol. 2010, 37: 574-578. 10.3899/jrheum.090440.
Article
PubMed
Google Scholar
Dawidowicz K, Allanore Y, Guedj M, Pierlot C, Bombardieri S, Balsa A, Westhovens R, Barrera P, Alves H, Teixeira VH, Petit-Teixeira E, van de Putte L, van Riel P, Prum B, Bardin T, Meyer O, Cornélis F, Dieudé P, ECRAF: The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype. Ann Rheum Dis. 2011, 70: 117-121. 10.1136/ard.2010.129171.
Article
PubMed
Google Scholar
Dieguez-Gonzalez R, Calaza M, Perez-Pampin E, de la Serna AR, Fernandez-Gutierrez B, Castaneda S, Largo R, Joven B, Narvaez J, Navarro F, Marenco JL, Vicario JL, Blanco FJ, Fernandez-Lopez JC, Caliz R, Collado-Escobar MD, Carreño L, Lopez-Longo J, Cañete JD, Gomez-Reino JJ, Gonzalez A: Association of interferon regulatory factor 5 haplotypes, similar to that found in systemic lupus erythematosus, in a large subgroup of patients with rheumatoid arthritis. Arthritis Rheum. 2008, 58: 1264-1274. 10.1002/art.23426.
Article
CAS
PubMed
Google Scholar
Dieude P, Dawidowicz K, Guedj M, Legrain Y, Wipff J, Hachulla E, Diot E, Sibilia J, Mouthon L, Cabane J, Amoura Z, Crakowski JL, Carpentier P, Avouac J, Meyer O, Kahan A, Boileau C, Allanore Y: Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity. J Rheumatol. 2010, 37: 987-992. 10.3899/jrheum.091163.
Article
CAS
PubMed
Google Scholar
Miceli-Richard C, Comets E, Loiseau P, Puechal X, Hachulla E, Mariette X: Association of an IRF5 gene functional polymorphism with Sjögren's syndrome. Arthritis Rheum. 2007, 56: 3989-3994. 10.1002/art.23142.
Article
PubMed Central
CAS
PubMed
Google Scholar
NCBI dbSNP Build 128. [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_summary.cgi?build_id=128]
Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005, 21: 263-265. 10.1093/bioinformatics/bth457.
Article
CAS
PubMed
Google Scholar
Stephens M, Smith NJ, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001, 68: 978-989. 10.1086/319501.
Article
PubMed Central
CAS
PubMed
Google Scholar
Levy JA, Buell DN, Creech C, Hirshaut Y, Silverberg H: Further characterization of the WI-L1 and WI-L2 lymphoblastoid lines. J Natl Cancer Inst. 1971, 46: 647-654.
CAS
PubMed
Google Scholar
Levy JA, Virolainen M, Defendi V: Human lymphoblastoid lines from lymph node and spleen. Cancer. 1968, 22: 517-524.
Article
CAS
PubMed
Google Scholar
The 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA: An integrated map of genetic variation from 1,092 human genomes. Nature. 2012, 491: 56-65. 10.1038/nature11632.
Article
PubMed Central
Google Scholar
Montgomery SB, Sammeth M, Gutierrez-Arcelus M, Lach RP, Ingle C, Nisbett J, Guigo R, Dermitzakis ET: Transcriptome genetics using second generation sequencing in a Caucasian population. Nature. 2010, 464: 773-777. 10.1038/nature08903.
Article
CAS
PubMed
Google Scholar
Kristjansdottir G, Sandling JK, Bonetti A, Roos IM, Milani L, Wang C, Gustafsdottir SM, Sigurdsson S, Lundmark A, Tienari PJ, Koivisto K, Elovaara I, Pirttilä T, Reunanen M, Peltonen L, Saarela J, Hillert J, Olsson T, Landegren U, Alcina A, Fernández O, Leyva L, Guerrero M, Lucas M, Izquierdo G, Matesanz F, Syvänen AC: Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet. 2008, 45: 362-369. 10.1136/jmg.2007.055012.
Article
PubMed Central
CAS
PubMed
Google Scholar
ENCODE project. [http://genome.ucsc.edu/ENCODE/]
Lee JH, Park IH, Gao Y, Li JB, Li Z, Daley GQ, Zhang K, Church GM: A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells. PLoS Genet. 2009, 5: e1000718-10.1371/journal.pgen.1000718.
Article
PubMed Central
PubMed
Google Scholar
Dimas AS, Deutsch S, Stranger BE, Montgomery SB, Borel C, Attar-Cohen H, Ingle C, Beazley C, Gutierrez Arcelus M, Sekowska M, Gagnebin M, Nisbett J, Deloukas P, Dermitzakis ET, Antonarakis SE: Common regulatory variation impacts gene expression in a cell type-dependent manner. Science. 2009, 325: 1246-1250. 10.1126/science.1174148.
Article
PubMed Central
CAS
PubMed
Google Scholar
Rullo OJ, Woo JM, Wu H, Hoftman AD, Maranian P, Brahn BA, McCurdy D, Cantor RM, Tsao BP: Association of IRF5 polymorphisms with activation of the interferon α pathway. Ann Rheum Dis. 2010, 69: 611-617. 10.1136/ard.2009.118315.
Article
PubMed Central
CAS
PubMed
Google Scholar
Siu HO, Yang W, Lau CS, Chan TM, Wong RW, Wong WH, Lau YL, Alarcon-Riquelme ME: Association of a haplotype of IRF5 gene with systemic lupus erythematosus in Chinese. J Rheumatol. 2008, 35: 360-362.
CAS
PubMed
Google Scholar
Kawasaki A, Kyogoku C, Ohashi J, Miyashita R, Hikami K, Kusaoi M, Tokunaga K, Takasaki Y, Hashimoto H, Behrens TW, Tsuchiya N: Association of IRF5 polymorphisms with systemic lupus erythematosus in a Japanese population: support for a crucial role of intron 1 polymorphisms. Arthritis Rheum. 2008, 58: 826-834. 10.1002/art.23216.
Article
CAS
PubMed
Google Scholar
Kelly JA, Kelley JM, Kaufman KM, Kilpatrick J, Bruner GR, Merrill JT, James JA, Frank SG, Reams E, Brown EE, Gibson AW, Marion MC, Langefeld CD, Li QZ, Karp DR, Wakeland EK, Petri M, Ramsey-Goldman R, Reveille JD, Vilá LM, Alarcón GS, Kimberly RP, Harley JB, Edberg JC: Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans. Genes Immun. 2008, 9: 187-194. 10.1038/gene.2008.4.
Article
CAS
PubMed
Google Scholar
Cheung VG, Conlin LK, Weber TM, Arcaro M, Jen KY, Morley M, Spielman RS: Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet. 2003, 33: 422-425. 10.1038/ng1094.
Article
CAS
PubMed
Google Scholar
Dixon AL, Liang L, Moffatt MF, Chen W, Heath S, Wong KC, Taylor J, Burnett E, Gut I, Farrall M, Lathrop GM, Abecasis GR, Cookson WO: A genome-wide association study of global gene expression. Nat Genet. 2007, 39: 1202-1207. 10.1038/ng2109.
Article
CAS
PubMed
Google Scholar
Kwan T, Benovoy D, Dias C, Gurd S, Provencher C, Beaulieu P, Hudson TJ, Sladek R, Majewski J: Genome-wide analysis of transcript isoform variation in humans. Nat Genet. 2008, 40: 225-231. 10.1038/ng.2007.57.
Article
CAS
PubMed
Google Scholar
Stranger BE, Nica AC, Forrest MS, Dimas A, Bird CP, Beazley C, Ingle CE, Dunning M, Flicek P, Koller D, Montgomery S, Tavaré S, Deloukas P, Dermitzakis ET: Population genomics of human gene expression. Nat Genet. 2007, 39: 1217-1224. 10.1038/ng2142.
Article
PubMed Central
CAS
PubMed
Google Scholar
Meyer KB, Maia AT, O'Reilly M, Teschendorff AE, Chin SF, Caldas C, Ponder BA: Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. PLoS Biol. 2008, 6: e108-10.1371/journal.pbio.0060108.
Article
PubMed Central
PubMed
Google Scholar
Egli RJ, Southam L, Wilkins JM, Lorenzen I, Pombo-Suarez M, Gonzalez A, Carr A, Chapman K, Loughlin J: Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum. 2009, 60: 2055-2064. 10.1002/art.24616.
Article
CAS
PubMed
Google Scholar
Butter F, Davison L, Viturawong T, Scheibe M, Vermeulen M, Todd JA, Mann M: Proteome-Wide Analysis of Disease-Associated SNPs That Show Allele-Specific Transcription Factor Binding. PLoS Genet. 2012, 8: e1002982-10.1371/journal.pgen.1002982.
Article
PubMed Central
CAS
PubMed
Google Scholar
Hardison RC, Taylor J: Genomic approaches towards finding cis-regulatory modules in animals. Nat Rev Genet. 2012, 13: 469-483. 10.1038/nrg3242.
Article
PubMed Central
CAS
PubMed
Google Scholar
Feng D, Stone RC, Eloranta ML, Sangster-Guity N, Nordmark G, Sigurdsson S, Wang C, Alm G, Syvanen AC, Ronnblom L, Barnes BJ: Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus. Arthritis Rheum. 2010, 62: 562-573.
PubMed Central
CAS
PubMed
Google Scholar
Collas P: The current state of chromatin immunoprecipitation. Mol Biotechnol. 2010, 45: 87-100. 10.1007/s12033-009-9239-8.
Article
CAS
PubMed
Google Scholar
Whitfield TW, Wang J, Collins PJ, Partridge EC, Aldred SF, Trinklein ND, Myers RM, Weng Z: Functional analysis of transcription factor binding sites in human promoters. Genome Biol. 2012, 13: R50-10.1186/gb-2012-13-9-r50.
Article
PubMed Central
PubMed
Google Scholar