Kyogoku C, Tsuchiya N. A compass that points to lupus: genetic studies on type I interferon pathway. Genes Immun. 2007;8:445–55.
Lau CS, Yin G, Mok MY. Ethnic and geographical differences in systemic lupus erythematosus: an overview. Lupus. 2006;15:715–9.
Johnson AE, Gordon C, Palmer RG, Bacon PA. The prevalence and incidence of systemic lupus erythematosus in Birmingham, England. Relationship to ethnicity and country of birth. Arthritis Rheum. 1995;38:551–8.
Seligman VA, Lum RF, Olson JL, Li H, Criswell LA. Demographic differences in the development of lupus nephritis: a retrospective analysis. Am J Med. 2002;112:726–9.
Alarcon GS, Friedman AW, Straaton KV, Moulds JM, Lisse J, Bastian HM, et al. Systemic lupus erythematosus in three ethnic groups: III. A comparison of characteristics early in the natural history of the LUMINA cohort. LUpus in MInority populations: NAture vs. Nurture. Lupus. 1999;8:197–209.
Bongu A, Chang E, Ramsey-Goldman R. Can morbidity and mortality of SLE be improved? Best Pract Res Clin Rheumatol. 2002;16:313–32.
Ward MM, Studenski S. Clinical manifestations of systemic lupus erythematosus. Identification of racial and socioeconomic influences. Arch Intern Med. 1990;150:849–53.
Vyse TJ, Todd JA. Genetic analysis of autoimmune disease. Cell. 1996;85:311–8.
Cui Y, Sheng Y, Zhang X. Genetic susceptibility to SLE: Recent progress from GWAS. J Autoimmun. 2013;41:25–33.
Deng Y, Tsao BP. Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol. 2010;6:683–92.
Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, Hu Z, et al. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet. 2009;41:1234–7.
Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997;40:1725.
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–75.
Sheng YJ, Gao JP, Li J, Han JW, Xu Q, Hu WL, et al. Follow-up study identifies two novel susceptibility loci PRKCB and 8p11.21 for systemic lupus erythematosus. Rheumatology (Oxford). 2011;50:682–8.
Zhang Z, Cheng Y, Zhou X, Li Y, Gao J, Han J, et al. Polymorphisms at 16p13 are associated with systemic lupus erythematosus in the Chinese population. J Med Genet. 2011;48:69–72.
Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nature genetics. 2009;41:1335–40.
Quan C, Ren YQ, Xiang LH, Sun LD, Xu AE, Gao XH, et al. Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. Nat Genet. 2010;42:614–8.
Zhang FR, Huang W, Chen SM, Sun LD, Liu H, Li Y, et al. Genomewide association study of leprosy. N Engl J Med. 2009;361:2609–18.
Sun LD, Xiao FL, Li Y, Zhou WM, Tang HY, Tang XF, et al. Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population. Nat Genet. 2011;43:690–4.
Wang LD, Zhou FY, Li XM, Sun LD, Song X, Jin Y, et al. Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. Nat Genet. 2010;42:759–63.
Higgins JP, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med. 2002;21:1539–58.
Sun LD, Cheng H, Wang ZX, Zhang AP, Wang PG, Xu JH, et al. Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nat Genet. 2010;42:1005–9.
Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst. 1959;22:719–48.
DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7:177–88.
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The human genome browser at UCSC. Genome Res. 2002;12:996–1006.
Baum PR, Gayle 3rd RB, Ramsdell F, Srinivasan S, Sorensen RA, Watson ML, et al. Molecular characterization of murine and human OX40/OX40 ligand systems: identification of a human OX40 ligand as the HTLV-1-regulated protein gp34. EMBO J. 1994;13:3992–4001.
Lane P. Role of OX40 signals in coordinating CD4 T cell selection, migration, and cytokine differentiation in T helper (Th)1 and Th2 cells. J Exp Med. 2000;191:201–6.
Ito T, Wang YH, Duramad O, Hanabuchi S, Perng OA, Gilliet M, et al. OX40 ligand shuts down IL-10-producing regulatory T cells. Proc Natl Acad Sci USA. 2006;103:13138–43.
Higgins LM, McDonald SA, Whittle N, Crockett N, Shields JG, MacDonald TT. Regulation of T cell activation in vitro and in vivo by targeting the OX40-OX40 ligand interaction: amelioration of ongoing inflammatory bowel disease with an OX40-IgG fusion protein, but not with an OX40 ligand-IgG fusion protein. J Immunol. 1999;162:486–93.
Cunninghame Graham DS, Morris DL, Bhangale TR, Criswell LA, Syvanen AC, Ronnblom L, et al. Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. PLoS Genet. 2011;7:e1002341.
Lessard CJ, Adrianto I, Ice JA, Wiley GB, Kelly JA, Glenn SB, et al. Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet. 2012;90:648–60.
Tamura T, Yanai H, Savitsky D, Taniguchi T. The IRF family transcription factors in immunity and oncogenesis. Annu Rev Immunol. 2008;26:535–84.
Wang H, Morse 3rd HC. IRF8 regulates myeloid and B lymphoid lineage diversification. Immunol Res. 2009;43:109–17.
Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, et al. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci USA. 2003;100:2610–5.
Baechler EC, Gregersen PK, Behrens TW. The emerging role of interferon in human systemic lupus erythematosus. Curr Opin Immunol. 2004;16:801–7.
Baechler EC, Batliwalla FM, Reed AM, Peterson EJ, Gaffney PM, Moser KL, et al. Gene expression profiling in human autoimmunity. Immunol Rev. 2006;210:120–37.
Lu LF, Boldin MP, Chaudhry A, Lin LL, Taganov KD, Hanada T, et al. Function of miR-146a in controlling Treg cell-mediated regulation of Th1 responses. Cell. 2010;142:914–29.
Lofgren SE, Frostegard J, Truedsson L, Pons-Estel BA, D'Alfonso S, Witte T, et al. Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene. Genes Immun. 2012;13:268–74.
Vivers S, Dransfield I, Hart SP. Role of macrophage CD44 in the disposal of inflammatory cell corpses. Clin Sci (Lond). 2002;103:441–9.
Ponta H, Sherman L, Herrlich PA. CD44: from adhesion molecules to signalling regulators. Nat Rev Mol Cell Biol. 2003;4:33–45.
Moser KL, Kelly JA, Lessard CJ, Harley JB. Recent insights into the genetic basis of systemic lupus erythematosus. Genes Immun. 2009;10:373–9.
Kariuki SN, Moore JG, Kirou KA, Crow MK, Utset TO, Niewold TB. Age- and gender-specific modulation of serum osteopontin and interferon-alpha by osteopontin genotype in systemic lupus erythematosus. Genes Immun. 2009;10:487–94.
Crispin JC, Tsokos GC. Novel molecular targets in the treatment of systemic lupus erythematosus. Autoimmun Rev. 2008;7:256–61.
Crispin JC, Keenan BT, Finnell MD, Bermas BL, Schur P, Massarotti E, et al. Expression of CD44 variant isoforms CD44v3 and CD44v6 is increased on T cells from patients with systemic lupus erythematosus and is correlated with disease activity. Arthritis Rheum. 2010;62:1431–7.
Ramos PS, Williams AH, Ziegler JT, Comeau ME, Guy RT, Lessard CJ, et al. Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus. Arthritis Rheum. 2011;63:2049–57.
Lessard CJ, Adrianto I, Kelly JA, Kaufman KM, Grundahl KM, Adler A, et al. Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study. Am J Hum Genet. 2011;88:83–91.
Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci. Hum Mol Genet. 2010;19:953–62.
Li MJ, Sham PC, Wang J. Genetic variant representation, annotation and prioritization in the post-GWAS era. Cell Res. 2012;22:1505–8.
Cooper GM, Stone EA, Asimenos G, Green ED, Batzoglou S, Sidow A. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005;15:901–13.
Sandelin A, Alkema W, Engstrom P, Wasserman WW, Lenhard B. JASPAR: an open-access database for eukaryotic transcription factor binding profiles. Nucleic Acids Res. 2004;32:D91–4.
Meier CR, Sturkenboom MC, Cohen AS, Jick H. Postmenopausal estrogen replacement therapy and the risk of developing systemic lupus erythematosus or discoid lupus. J Rheumatol. 1998;25:1515–9.
Tessnow AH, Olsen NJ, Kovacs WJ. Expression of humoral autoimmunity is related to androgen receptor CAG repeat length in men with systemic lupus erythematosus. J Clin Immunol. 2011;31:567–73.
Robeva R, Tanev D, Andonova S, Kirilov G, Savov A, Stoycheva M, et al. Androgen receptor (CAG)n polymorphism and androgen levels in women with systemic lupus erythematosus and healthy controls. Rheumatol Int. 2013;33:2031–8.