The autoimmune disease risk allele of UBE2L3 in African American patients with systemic lupus erythematosus: A recessive effect upon subphenotypes

Journal of Rheumatology

Volumn 39, Issue 1, 2012, Pages 73-78

  Agik, Sandra ^a   Franek, Beverly S ^a   Kumar, Akaash A ^a   Kumabe, Marissa ^a   Utset, Tammy O ^a   Mikolaitis, Rachel A ^b   Jolly, Meenakshi ^b   Niewold, Timothy B ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b RUSH UNIVERSITY   (United States)

Author keywords

Autoantibodies; Genetics; Interferon ; Systemic lupus erythematosus; UBE2L3 genotype

Indexed keywords

ALPHA INTERFERON; LA ANTIBODY;

AFRICAN AMERICAN; ANTIBODY BLOOD LEVEL; ARTICLE; CASE CONTROL STUDY; COHORT ANALYSIS; CONTROLLED STUDY; EUROPEAN AMERICAN; GENE FREQUENCY; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; IMMUNE RESPONSE GENE; IMMUNOPATHOGENESIS; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RECESSIVE INHERITANCE; RISK ASSESSMENT; SYSTEMIC LUPUS ERYTHEMATOSUS; UBE2L3 GENE;

AFRICAN AMERICANS; ALLELES; AUTOANTIBODIES; AUTOANTIGENS; AUTOIMMUNE DISEASES; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTERFERON-ALPHA; LUPUS ERYTHEMATOSUS, SYSTEMIC; PHENOTYPE; POLYMORPHISM, GENETIC; RIBONUCLEOPROTEINS; UBIQUITIN-CONJUGATING ENZYMES;

EID: 84855398687     PISSN: 0315162X     EISSN: 14992752     Source Type: Journal    
DOI: 10.3899/jrheum.110590     Document Type: Article

References (37)

1. Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, 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;40:204-10. (Pubitemid 351171405)
2. Harley JB, Kelly JA, Kaufman KM. Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol 2006;28:119-30. (Pubitemid 44526313)
3. Cooper GS, Parks CG, Treadwell EL, St. Clair EW, Gilkeson GS, Cohen PL, et al. Differences by race, sex and age in the clinical and immunologic features of recently diagnosed systemic lupus erythematosus patients in the southeastern United States. Lupus 2002;11:161-7. (Pubitemid 34296931)
4. Chapman SJ, Khor CC, Vannberg FO, Maskell NA, Davies CW, Hedley EL, et al. PTPN22 and invasive bacterial disease. Nat Genet 2006;38:499-500.
5. Lodolce JP, Kolodziej LE, Rhee L, Kariuki SN, Franek BS, McGreal NM, et al. African-derived genetic polymorphisms in TNFAIP3 mediate risk for autoimmunity. J Immunol 2010;184:7001-9.
6. Kariuki SN, Franek BS, Mikolaitis RA, Utset TO, Jolly M, Skol AD, et al. Promoter variant of PIK3C3 is associated with autoimmunity against Ro and Sm epitopes in African-American lupus patients. J Biomed Biotechnol 2010;2010:826434.
7. Kariuki SN, Franek BS, Kumar AA, Arrington J, Mikolaitis RA, Utset TO, et al. Trait-stratified genome-wide association study identifies novel and diverse genetic associations with serologic and cytokine phenotypes in systemic lupus erythematosus. Arthritis Res Ther 2010;12:R151.
8. Pothlichet J, Niewold TB, Vitour D, Solhonne B, Crow MK, Si-Tahar M. A loss-of-function variant of the antiviral molecule MAVS is associated with a subset of systemic lupus patients. EMBO Mol Med 2011;3:142-52.
9. Orozco G, Eyre S, Hinks A, Bowes J, Morgan AW, Wilson AG, et al. Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis 2011;70:463-8.
10. Fransen K, Visschedijk MC, van Sommeren S, Fu JY, Franke L, Festen EA, et al. Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. Hum Mol Genet 2010;19:3482-8.
11. Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X, et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 2009;41:1228-33.
12. Weissman AM. Themes and variations on ubiquitylation. Nat Rev Mol Cell Biol 2001;2:169-78. (Pubitemid 33675741)
13. Nuber U, Schwarz S, Kaiser P, Schneider R, Scheffner M. Cloning of human ubiquitin-conjugating enzymes UbcH6 and UbcH7 (E2-F1) and characterization of their interaction with E6-AP and RSP5. J Biol Chem 1996;271:2795-800. (Pubitemid 26047899)
14. Chuang TH, Ulevitch RJ. Triad3A, an E3 ubiquitin-protein ligase regulating Toll-like receptors. Nat Immunol 2004;5:495-502. (Pubitemid 38660461)
15. Salloum R, Niewold TB. Interferon regulatory factors in human lupus pathogenesis. Transl Res 2011;157:326-31.
16. Niewold TB, Hua J, Lehman TJ, Harley JB, Crow MK. High serum IFN-alpha activity is a heritable risk factor for systemic lupus erythematosus. Genes Immun 2007;8:492-502. (Pubitemid 47365615)
17. Niewold TB, Swedler WI. Systemic lupus erythematosus arising during interferon-alpha therapy for cryoglobulinemic vasculitis associated with hepatitis C. Clin Rheumatol 2005;24:178-81. (Pubitemid 40552976)
18. Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, et al. 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;38:550-5.
19. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007;357:977-86. (Pubitemid 47367077)
20. Niewold TB, Kelly JA, Flesch MH, Espinoza LR, Harley JB, Crow MK. Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients. Arthritis Rheum 2008;58:2481-7.
21. Kariuki SN, Crow MK, Niewold TB. The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus. Arthritis Rheum 2008;58:2818-23.
22. Salloum R, Franek BS, Kariuki SN, Rhee L, Mikolaitis RA, Jolly M, et al. Genetic variation at the IRF7/PHRF1 locus is associated with autoantibody profile and serum interferon-alpha activity in lupus patients. Arthritis Rheum 2010;62:553-61.
23. Robinson T, Kariuki SN, Franek BS, Kumabe M, Kumar AA, Badaracco M, et al. Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-a and serologic autoimmunity in lupus patients. J Immunol 2011;187:1298-303.
24. Kariuki SN, Niewold TB. Genetic regulation of serum cytokines in systemic lupus erythematosus. Transl Res 2010;155:109-17.
25. Weckerle CE, Franek BS, Kelly JA, Kumabe M, Mikolaitis RA, Green SL, et al. Network analysis of associations between serum interferon-alpha activity, autoantibodies, and clinical features in systemic lupus erythematosus. Arthritis Rheum 2011;63:1044-53.
26. Arbuckle MR, McClain MT, Rubertone MV, Scofield RH, Dennis GJ, James JA, et al. Development of autoantibodies before the clinical onset of systemic lupus erythematosus. N Engl J Med 2003;349:1526-33. (Pubitemid 37255038)
27. Niewold TB, Adler JE, Glenn SB, Lehman TJ, Harley JB, Crow MK. Age- and sex-related patterns of serum interferon-alpha activity in lupus families. Arthritis Rheum 2008;58:2113-9. (Pubitemid 351988103)
28. Niewold TB, Kariuki SN, Morgan GA, Shrestha S, Pachman LM. Elevated serum interferon-alpha activity in juvenile dermatomyositis: associations with disease activity at diagnosis and after thirty-six months of therapy. Arthritis Rheum 2009;60:1815-24.
29. Niewold TB, Rivera TL, Buyon JP, Crow MK. Serum type I interferon activity is dependent on maternal diagnosis in anti-SSA/Ro-positive mothers of children with neonatal lupus. Arthritis Rheum 2008;58:541-6. (Pubitemid 351294888)
30. Parra EJ, Marcini A, Akey J, Martinson J, Batzer MA, Cooper R, et al. Estimating African American admixture proportions by use of population-specific alleles. Am J Hum Genet 1998;63:1839-51. (Pubitemid 30415746)
31. Budarf ML, Goyette P, Boucher G, Lian J, Graham RR, Claudio JO, et al. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. Genes Immun 2011;12:51-8.
32. Harley IT, Niewold TB, Stormont RM, Kaufman KM, Glenn SB, Franek BS, et al. The role of genetic variation near interferon-kappa in systemic lupus erythematosus. J Biomed Biotechnol 2010;2010:706825. [Epub 2010 Jul 15]
33. Lovgren T, Eloranta ML, Bave U, Alm GV, Ronnblom L. Induction of interferon-alpha production in plasmacytoid dendritic cells by immune complexes containing nucleic acid released by necrotic or late apoptotic cells and lupus IgG. Arthritis Rheum 2004;50:1861-72. (Pubitemid 38725099)
34. Kirou KA, Lee C, George S, Louca K, Peterson MG, Crow MK. Activation of the interferon-alpha pathway identifies a subgroup of systemic lupus erythematosus patients with distinct serologic features and active disease. Arthritis Rheum 2005;52:1491-503. (Pubitemid 40663941)
35. Landolt-Marticorena C, Bonventi G, Lubovich A, Ferguson C, Unnithan T, Su J, et al. Lack of association between the interferon-alpha signature and longitudinal changes in disease activity in systemic lupus erythematosus. Ann Rheum Dis 2009;68:1440-6.
36. Petri M, Singh S, Tesfasyone H, Dedrick R, Fry K, Lal P, et al. Longitudinal expression of type I interferon responsive genes in systemic lupus erythematosus. Lupus 2009;18:980-9.
37. Weckerle CE, Niewold TB. The unexplained female predominance of systemic lupus erythematosus: Clues from genetic and cytokine studies. Clin Rev Allergy Immunol 2011;40:42-9.