Danchenko N, Satia J, Anthony M. Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden. Lupus. 2006;15(5):308–18.
Article
PubMed
CAS
Google Scholar
Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, Tsao BP, Vyse TJ, Langefeld CD, Nath SK, et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet. 2008;40(2):204–10.
Article
PubMed
PubMed Central
CAS
Google Scholar
Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X, Ortmann W, Kosoy R, Ferreira RC, Nordmark G. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet. 2009;41(11):1228–33.
Article
PubMed
PubMed Central
CAS
Google Scholar
Bentham J, Morris DL, Cunninghame Graham DS, Pinder CL, Tombleson P, Behrens TW, Martin J, Fairfax BP, Knight JC, Chen L, et al. Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat Genet. 2015;47(12):1457–64.
Article
PubMed
PubMed Central
CAS
Google Scholar
Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, Leon JM, Burtt NP, Guiducci C, Parkin M, Gates C. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet. 2008;40(9):1059–61.
Article
PubMed
PubMed Central
CAS
Google Scholar
Yang W, Shen N, Ye D-Q, Liu Q, Zhang Y, Qian X-X, Hirankarn N, Ying D, Pan H-F, Mok CC. Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. PLoS Genet. 2010;6(2):e1000841.
Article
PubMed
PubMed Central
CAS
Google Scholar
Tsokos GC, Lo MS, Reis PC, Sullivan KE. New insights into the immunopathogenesis of systemic lupus erythematosus. Nat Rev Rheumatol. 2016;12(12):716–30.
Article
PubMed
CAS
Google Scholar
Plenge RM, Scolnick EM, Altshuler D. Validating therapeutic targets through human genetics. Nat Rev Drug Discov. 2013;12(8):581–94.
Article
PubMed
CAS
Google Scholar
Morris DL, Sheng Y, Zhang Y, Wang Y-F, Zhu Z, Tombleson P, Chen L, Graham DSC, Bentham J, Roberts AL. Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. Nat Genet. 2016;48(8):940–6.
Article
PubMed
PubMed Central
CAS
Google Scholar
Kanehisa M, Sato Y, Kawashima M, Furumichi M, Tanabe M. KEGG as a reference resource for gene and protein annotation. Nucleic Acids Res. 2015;44.D1:D457–D462.
Croft D, Mundo AF, Haw R, Milacic M, Weiser J, Wu G, Caudy M, Garapati P, Gillespie M, Kamdar MR. The Reactome pathway knowledgebase. Nucleic Acids Res. 2014;42(D1):D472–7.
Article
PubMed
CAS
Google Scholar
Aterido A, Julia A, Ferrandiz C, Puig L, Fonseca E, Fernandez-Lopez E, Dauden E, Sanchez-Carazo JL, Lopez-Estebaranz JL, Moreno-Ramirez D, et al. Genome-wide pathway analysis identifies genetic pathways associated with psoriasis. J Invest Dermatol. 2016;136(3):593–602.
Article
PubMed
CAS
Google Scholar
Julia A, Pinto JA, Gratacos J, Queiro R, Ferrandiz C, Fonseca E, Montilla C, Torre-Alonso JC, Puig L, Perez Venegas JJ, et al. A deletion at ADAMTS9-MAGI1 locus is associated with psoriatic arthritis risk. Ann Rheum Dis. 2015;74(10):1875–81.
Article
PubMed
CAS
Google Scholar
Tan EM, Cohen AS, Fries JF, Masi AT, Mcshane DJ, Rothfield NF, Schaller JG, Talal N, Winchester RJ. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheumatol. 1982;25(11):1271–7.
Article
CAS
Google Scholar
Julia A, Gonzalez I, Fernandez-Nebro A, Blanco F, Rodriguez L, Gonzalez A, Canete JD, Maymo J, Alperi-Lopez M, Olive A, et al. A genome-wide association study identifies SLC8A3 as a susceptibility locus for ACPA-positive rheumatoid arthritis. Rheumatology (Oxford). 2016;55(6):1106–11.
Article
CAS
Google Scholar
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559–75.
Article
PubMed
PubMed Central
CAS
Google Scholar
Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38(8):904–9.
Article
PubMed
CAS
Google Scholar
Bonàs-Guarch S, Guindo-Martínez M, Miguel-Escalada I, Grarup N, Sebastian D, Rodriguez-Fos E, et al. Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. Nat Commun. 2018;9(1):321.
Delaneau O, Zagury JF, Marchini J. Improved whole-chromosome phasing for disease and population genetic studies. Nat Methods. 2013;10(1):5–6.
Article
PubMed
CAS
Google Scholar
Consortium GP. A map of human genome variation from population-scale sequencing. Nature. 2010;467(7319):1061–73.
Article
CAS
Google Scholar
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(7422):56–65.
Article
PubMed
CAS
Google Scholar
Marchini J, Howie B, Myers S, McVean G, Donnelly P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet. 2007;39(7):906–13.
Article
PubMed
CAS
Google Scholar
Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics. 2010;26(17):2190–1.
Article
PubMed
PubMed Central
CAS
Google Scholar
Cantor RM, Lange K, Sinsheimer JS. Prioritizing GWAS results: a review of statistical methods and recommendations for their application. Am J Hum Genet. 2010;86(1):6–22.
Article
PubMed
PubMed Central
CAS
Google Scholar
Lamparter D, Marbach D, Rueedi R, Kutalik Z, Bergmann S. Fast and rigorous computation of gene and pathway scores from SNP-based summary statistics. PLoS Comput Biol. 2016;12(1):e1004714.
Article
PubMed
PubMed Central
CAS
Google Scholar
Romanoski CE, Glass CK, Stunnenberg HG, Wilson L, Almouzni G. Epigenomics: Roadmap for regulation. Nature. 2015;518(7539):314–6.
Article
PubMed
CAS
Google Scholar
Ogura K, Okamura H. Conformational change of Sos-derived proline-rich peptide upon binding Grb2 N-terminal SH3 domain probed by NMR. Sci Rep. 2013;3:2913.
Article
PubMed
Google Scholar
Lösing M, Goldbeck I, Manno B, Oellerich T, Schnyder T, Bohnenberger H, Stork B, Urlaub H, Batista FD, Wienands J. The Dok-3/Grb2 protein signal module attenuates Lyn kinase-dependent activation of Syk kinase in B cell antigen receptor microclusters. J Biol Chem. 2013;288(4):2303–13.
Article
PubMed
CAS
Google Scholar
Reth M, Gold MR. What goes up must come down: a tripartite Dok-3/Grb2/SHIP1 inhibitory module limits BCR signaling. Eur J Immunol. 2016;46(11):2507–11.
Article
PubMed
CAS
Google Scholar
Doreau A, Belot A, Bastid J, Riche B, Trescol-Biemont M-C, Ranchin B, Fabien N, Cochat P, Pouteil-Noble C, Trolliet P. Interleukin 17 acts in synergy with B cell–activating factor to influence B cell biology and the pathophysiology of systemic lupus erythematosus. Nat Immunol. 2009;10(7):778.
Article
PubMed
CAS
Google Scholar
Janssen E, Zhu M, Zhang W, Koonpaew S, Zhang W. LAB: a new membrane-associated adaptor molecule in B cell activation. Nat Immunol. 2003;4(2):117–23.
Article
PubMed
CAS
Google Scholar
Hughes T, Adler A, Merrill JT, Kelly JA, Kaufman KM, Williams A, Langefeld CD, Gilkeson GS, Sanchez E, Martin J. Analysis of autosomal genes reveals gene–sex interactions and higher total genetic risk in men with systemic lupus erythematosus. Ann Rheum Dis. 2012;71:694–9.
Hamamoto R, Furukawa Y, Morita M, Iimura Y, Silva FP, Li M, Yagyu R, Nakamura Y. SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells. Nat Cell Biol. 2004;6(8):731–40.
Article
PubMed
CAS
Google Scholar
Absher DM, Li X, Waite LL, Gibson A, Roberts K, Edberg J, Chatham WW, Kimberly RP. Genome-wide DNA methylation analysis of systemic lupus erythematosus reveals persistent hypomethylation of interferon genes and compositional changes to CD4+ T-cell populations. PLoS Genet. 2013;9(8):e1003678.
Article
PubMed
PubMed Central
CAS
Google Scholar
van Bavel CC, Dieker JW, Kroeze Y, Tamboer WP, Voll R, Muller S, Berden JH, van der Vlag J. Apoptosis-induced histone H3 methylation is targeted by autoantibodies in systemic lupus erythematosus. Ann Rheum Dis. 2011;70(1):201–7.
Article
PubMed
CAS
Google Scholar
Fehrmann RS, Karjalainen JM, Krajewska M, Westra H-J, Maloney D, Simeonov A, Pers TH, Hirschhorn JN, Jansen RC, Schultes EA. Gene expression analysis identifies global gene dosage sensitivity in cancer. Nat Genet. 2015;47(2):115–25.
Article
PubMed
CAS
Google Scholar
Westra H-J, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet. 2013;45(10):1238–43.
Article
PubMed
PubMed Central
CAS
Google Scholar
Lappalainen T, Sammeth M, Friedländer MR, AC’t Hoen P, Monlong J, Rivas MA, Gonzalez-Porta M, Kurbatova N, Griebel T, Ferreira PG. Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 2013;501(7468):506.
Article
PubMed
PubMed Central
CAS
Google Scholar
McCarthy MI, MacArthur DG. Human disease genomics: from variants to biology. BioMed Central. 2017;18(1):20.
Google Scholar
Visscher PM, Wray NR, Zhang Q, Sklar P, McCarthy MI, Brown MA, Yang J. 10 Years of GWAS discovery: biology, function, and translation. Am J Hum Genet. 2017;101(1):5–22.
Article
PubMed
PubMed Central
CAS
Google Scholar
Rankin AL, Seth N, Keegan S, Andreyeva T, Cook TA, Edmonds J, Mathialagan N, Benson MJ, Syed J, Zhan Y. Selective inhibition of BTK prevents murine lupus and antibody-mediated glomerulonephritis. J Immunol. 2013;191(9):4540–50.
Article
PubMed
CAS
Google Scholar
Merrill J, Burgos-Vargas R, Westhovens R, Chalmers A, D'cruz D, Wallace D, Bae S, Sigal L, Becker JC, Kelly S. The efficacy and safety of abatacept in patients with non–life-threatening manifestations of systemic lupus erythematosus: results of a twelve-month, multicenter, exploratory, phase IIb, randomized, double-blind, placebo-controlled trial. Arthritis Rheum. 2010;62(10):3077–87.
Article
PubMed
CAS
Google Scholar
Nelson MR, Tipney H, Painter JL, Shen J, Nicoletti P, Shen Y, Floratos A, Sham PC, Li MJ, Wang J. The support of human genetic evidence for approved drug indications. Nat Genet. 2015;47(8):856.
Article
PubMed
CAS
Google Scholar
Kwek SS, Cha E, Fong L. Unmasking the immune recognition of prostate cancer with CTLA4 blockade. Nat Rev Cancer. 2012;12(4):289.
Article
PubMed
PubMed Central
CAS
Google Scholar
Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Yoshida S, et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature. 2014;506(7488):376–81.
Article
PubMed
CAS
Google Scholar
Pimentel-Quiroz VR, Ugarte-Gil MF, Alarcón GS. Abatacept for the treatment of systemic lupus erythematosus. Expert Opin Investig Drugs. 2016;25(4):493–9.
Article
PubMed
CAS
Google Scholar