Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus

Annals of the Rheumatic Diseases

Volumn 70, Issue 10, 2011, Pages 1752-1757

  Sanchez, Elena ^a   Nadig, Ajay ^a   Richardson, Bruce C ^b,c   Freedman, Barry I ^d   Kaufman, Kenneth M ^a,e,f   Kelly, Jennifer A ^a   Niewold, Timothy B ^g   Kamen, Diane L ^h   Gilkeson, Gary S ^h   Ziegler, Julie T ⁱ   Langefeld, Carl D ⁱ   Alarcón, Graciela S ^j   Edberg, Jeffrey C ^j   Ramsey Goldman, Rosalind ^k   Petri, Michelle ^l   Brown, Elizabeth E ^j   Kimberly, Robert P ^j   Reveille, John D ^m   Vilá, Luis M ⁿ   Merrill, Joan T ^a,e   Anaya, Juan Manuel ^o   James, Judith A ^a,e   Pons Estel, Bernardo A ^p   Martin, Javier ^q   Park, So Yeon ^r   Bang, So Young ^r   Bae, Sang Cheol ^r   Moser, Kathy L ^a   Vyse, Timothy J ^s   Criswell, Lindsey A ^t   Gaffney, Patrick M ^a   Tsao, Betty P ^u   Jacob, Chaim O ^v   Harley, John B ^w,x   Alarcón Riquelme, Marta E ^a,y   Sawalha, Amr H ^a,e,f   more..

^a OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c VA ANN ARBOR HEALTHCARE SYSTEM   (United States)

^d WAKE FOREST SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^f VETERANS AFFAIRS MEDICAL CENTER   (United States)

^g UNIVERSITY OF CHICAGO   (United States)

^h MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

ⁱ WAKE FOREST UNIVERSITY HEALTH SCIENCES   (United States)

^j and Clinical Center   (United States)

^k NORTHWESTERN UNIVERSITY   (United States)

^l JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

ⁿ UNIVERSITY OF PUERTO RICO   (Puerto Rico)

^o UNIVERSIDAD DEL ROSARIO   (Colombia)

^p Sanatorio Parque   (Argentina)

^q INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

^r Hanyang Institute of Bioscience and Biotechnology   (South Korea)

^s KING'S COLLEGE LONDON   (United Kingdom)

^t UNIVERSITY OF CALIFORNIA   (United States)

^u UNIVERSITY OF CALIFORNIA   (United States)

^v UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^w CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^x VETERANS AFFAIRS MEDICAL CENTER   (United States)

^y UNIVERSITY OF GRANADA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CD11B ANTIGEN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; FC RECEPTOR IIA; INTERLEUKIN 21; INTERMEDIN; INTERMEDIN 5; METHYL CPG BINDING PROTEIN 2; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; OX40 LIGAND; PROGRAMMED DEATH 1 RECEPTOR; STAT4 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AFRICAN AMERICAN; ARTICLE; ASIAN; DISCOID LUPUS ERYTHEMATOSUS; ETHNIC GROUP; EUROPEAN; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENOTYPE; HEMATOLOGIC DISEASE; HISPANIC; HUMAN; INFLAMMATION; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MALE; MOUTH ULCER; NEUROLOGIC DISEASE; ONSET AGE; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; RASH; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; AFRICAN AMERICANS; ASIAN CONTINENTAL ANCESTRY GROUP; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LUPUS ERYTHEMATOSUS, DISCOID; LUPUS ERYTHEMATOSUS, SYSTEMIC; LUPUS NEPHRITIS; MALE; MIDDLE AGED; ORAL ULCER; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 80052461085     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/ard.2011.154104     Document Type: Article

References (64)

1. Lau CS, Yin G, Mok MY. Ethnic and geographical differences in systemic lupus erythematosus: an overview. Lupus 2006;15:715-19.
2. McCarty DJ, Manzi S, Medsger TA Jr, et al. Incidence of systemic lupus erythematosus. Race and gender differences. Arthritis Rheum 1995;38:1260-70.
3. Seligman VA, Lum RF, Olson JL, et al. Demographic differences in the development of lupus nephritis: a retrospective analysis. Am J Med 2002;112:726-9.
4. Harley JB, Kelly JA, Kaufman KM. Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol 2006;28:119-30.
5. Delgado-Vega A, Sánchez E, Löfgren S, et al. Recent findings on genetics of systemic autoimmune diseases. Curr Opin Immunol 2010;22:698-705.
6. Harley IT, Kaufman KM, Langefeld CD, et al. Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies. Nat Rev Genet 2009;10:285-90.
7. Rhodes B, Vyse TJ. The genetics of SLE: an update in the light of genome-wide association studies. Rheumatology (Oxford) 2008;47:1603-11.
8. Sigurdsson S, Nordmark G, Göring HH, et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 2005;76:528-37.
9. Harley JB, Alarcón-Riquelme ME, Criswell LA, et al.; International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN). 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.
10. Hom G, Graham RR, Modrek B, et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008;358:900-9.
11. Kozyrev SV, Abelson AK, Wojcik J, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008;40:211-16.
12. Remmers EF, Plenge RM, Lee AT, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007;357:977-86.
13. Sawalha AH, Webb R, Han S, et al. Common variants within MECP2 confer risk of systemic lupus erythematosus. PLoS ONE 2008;3:e1727.
14. Graham RR, Kozyrev SV, Baechler EC, et al; Argentine and Spanish Collaborative Groups. 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.
15. Abelson AK, Delgado-Vega AM, Kozyrev SV, et al; AADEA group. STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk. Ann Rheum Dis 2009;68:1746-53.
16. Nath SK, Han S, Kim-Howard X, et al. A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM ) is associated with systemic lupus erythematosus. Nat Genet 2008;40:152-4.
17. Cunninghame Graham DS, Graham RR, Manku H, et al. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 2008;40:83-9.
18. Sawalha AH, Kaufman KM, Kelly JA, et al. Genetic association of interleukin-21 polymorphisms with systemic lupus erythematosus. Ann Rheum Dis 2008;67:458-61.
19. Garred P, Madsen HO, Halberg P, et al. Mannose-binding lectin polymorphisms and susceptibility to infection in systemic lupus erythematosus. Arthritis Rheum 1999;42:2145-52.
20. Torres B, Aguilar F, Franco E, et al. Association of the CT60 marker of the C TLA4 gene with systemic lupus erythematosus. Arthritis Rheum 2004;50:2211-15.
21. Salmon JE, Millard S, Schachter LA, et al. Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. J Clin Invest 1996;97:1348-54.
22. Prokunina L, Castillejo-López C, Oberg F, et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 2002;32:666-9.
23. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997;40:1725.
24. Sanchez E, Webb RD, Rasmussen A, et al. Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. Arthritis Rheum 2010;62:3722-9.
25. Kosoy R, Nassir R, Tian C, et al. Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. Hum Mutat 2009;30:69-78.
26. Halder I, Shriver M, Thomas M, et al. A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications. Hum Mutat 2008;29:648-58.
27. Smith MW, Patterson N, Lautenberger JA, et al. A high-density admixture map for disease gene discovery in African Americans. Am J Hum Genet 2004;74:1001-13.
28. Yang N, Li H, Criswell LA, et al. Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine. Hum Genet 2005;118:382-92.
29. Price AL, Patterson NJ, Plenge RM, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006;38:904-9.
30. McKeigue PM, Carpenter JR, Parra EJ, et al. Estimation of admixture and detection of linkage in admixed populations by a Bayesian approach: application to African-American populations. Ann Hum Genet 2000;64:171-86.
31. Hoggart CJ, Parra EJ, Shriver MD, et al. Control of confounding of genetic associations in stratified populations. Am J Hum Genet 2003;72:1492-504.
32. Hoggart CJ, Shriver MD, Kittles RA, et al. Design and analysis of admixture mapping studies. Am J Hum Genet 2004;7 4:965-78.
33. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75.
34. Guedj M, Wojcik J, Della-Chiesa E, et al. A fast, unbiased and exact allelic test for case-control association studies. Hum Hered 2006;61:210-21.
35. Breslow NE, Day NE, Halvorsen KT, et al. Estimation of multiple relative risk functions in matched case-control studies. Am J Epidemiol 1978;108:299-307.
36. Benjamini Y, Drai D, Elmer G, et al. Controlling the false discovery rate in behavior genetics research. Behav Brain Res 2001;125:279-84.
37. Kim-Howard X, Maiti AK, Anaya JM, et al. ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry. Ann Rheum Dis 2010;69:1329-32.
38. Yang W, Zhao M, Hirankarn N, et al. ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai. Hum Mol Genet 2009;18:2063-70.
39. Warchol T, Lianeri M, Lacki JK, et al. ITGAM Arg77 His is associated with disease susceptibility, arthritis, and renal symptoms in systemic lupus erythematosus patients from a sample of the Polish population. DNA Cell Biol 2011;30:33-8.
40. Järvinen TM, Hellquist A, Koskenmies S, et al. Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus. PLoS ONE 2010;5:e14212.
41. Taylor KE, Chung SA, Graham RR, et al. Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes. PLoS Genet 2011;7:e1001311.
42. Iwata Y, Furuichi K, Kitagawa K, et al. Involvement of CD11b+ GR-1 low cells in autoimmune disorder in MRL-Fas lpr mouse. Clin Exp Nephrol 2010;14:411-17.
43. Ehirchiou D, Xiong Y, Xu G, et al. C D11b facilitates the development of peripheral tolerance by suppressing Th17 differentiation. J Exp Med 2007;204:1519-24.
44. Tanasescu C, Balanescu E, Balanescu P, et al. IL-17 in cutaneous lupus erythematosus. Eur J Intern Med 2010;21:202-7.
45. Stüber E, Strober W. The T cell-B cell interaction via OX40-OX40L is necessary for the T cell-dependent humoral immune response. J Exp Med 1996;183:979-89.
46. Farres MN, Al-Zifzaf DS, Aly AA, et al. OX40/OX40L in systemic lupus erythematosus: association with disease activity and lupus nephritis. Ann Saudi Med 2011;31:29-34.
47. Patschan S, Dolff S, Kribben A, et al. C D134 expression on CD4+ T cells is associated with nephritis and disease activity in patients with systemic lupus erythematosus. Clin Exp Immunol 2006;145:235-42.
48. Odobasic D, Kitching AR, Tipping PG, et al. CD80 and CD86 costimulatory molecules regulate crescentic glomerulonephritis by different mechanisms. Kidney Int 2005;68:584-94.
49. Aten J, Roos A, Claessen N, et al. Strong and selective glomerular localization of CD134 ligand and TNF receptor-1 in proliferative lupus nephritis. J Am Soc Nephrol 2000;11:1426-38.
50. Zhou YB, Ye RG, Li YJ, et al. Targeting the CD134-CD134L interaction using anti-CD134 and/or rhCD134 fusion protein as a possible strategy to prevent lupus nephritis. Rheumatol Int 2009;29:417-25.
51. Namjou B, Sestak AL, Armstrong DL, et al. High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups. Arthritis Rheum 2009;60:1085-95.
52. Taylor KE, Remmers EF, Lee AT, et al. Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus. PLoS Genet 2008;4:e1000084.
53. Jacob CO, Zang S, Li L, et al. Pivotal role of Stat4 and Stat6 in the pathogenesis of the lupus-like disease in the New Zealand mixed 2328 mice. J Immunol 2003;171:1564-71.
54. Finnegan A, Grusby MJ, Kaplan CD, et al. IL-4 and IL-12 regulate proteoglycan-induced arthritis through Stat-dependent mechanisms. J Immunol 2002;169:3345-52.
55. Duits AJ, Bootsma H, Derksen RH, et al. Skewed distribution of IgG Fc receptor IIa (CD32) polymorphism is associated with renal disease in systemic lupus erythematosus patients. Arthritis Rheum 1995;38:1832-6.
56. Millard TP, Kondeatis E, Cox A, et al. A candidate gene analysis of three related photosensitivity disorders: cutaneous lupus erythematosus, polymorphic light eruption and actinic prurigo. Br J Dermatol 2001;145:229-36.
57. Spolski R, Leonard WJ. The yin and yang of interleukin-21 in allergy, autoimmunity and cancer. Curr Opin Immunol 2008;20:295-301.
58. Monteleone G, Pallone F, MacDonald TT. Interleukin-21: a critical regulator of the balance between effector and regulatory T-cell responses. Trends Immunol 2008;29:290-4.
59. Peluso I, Fantini MC, Fina D, et al. I L-21 counteracts the regulatory T cell-mediated suppression of human CD4+ Tlymphocytes. J Immunol 2007;178:732-9.
60. Wong CK, Wong PT, Tam LS, et al. Elevated production of B cell chemokine CXCL13 is correlated with systemic lupus erythematosus disease activity. J Clin Immunol 2010;30:45-52.
61. Herber D, Brown TP, Liang S, et al. I L-21 has a pathogenic role in a lupus-prone mouse model and its blockade with IL-21R.Fc reduces disease progression. J Immunol 2007;178:3822-30.
62. Mitoma H, Horiuchi T, Kimoto Y, et al. Decreased expression of interleukin-21 receptor on peripheral B lymphocytes in systemic lupus erythematosus. Int J Mol Med 2005;16:609-15.
63. Webb R, Merrill JT, Kelly JA, et al. A polymorphism within IL21R confers risk for systemic lupus erythematosus. Arthritis Rheum 2009;60:2402-7.
64. Han JW, Zheng HF, Cui Y, 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.