Genetics of systemic lupus erythematosus: How far have we come?

Rheumatic Disease Clinics of North America

Volumn 31, Issue 2, 2005, Pages 223-244

  Sestak, Andrea L ^a   Nath, Swapan K ^a   Harley, John B ^b,c  

^a OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

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

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT; CYTOKINE; DIPEPTIDYL CARBOXYPEPTIDASE; GAMMA INTERFERON; INTERLEUKIN 1; INTERLEUKIN 10; INTERLEUKIN 4; INTERLEUKIN 6; INTERLEUKIN 8; VITAMIN D RECEPTOR;

ACCURACY; ALLELE; APOPTOSIS; DISEASE ASSOCIATION; DNA POLYMORPHISM; GENETIC LINKAGE; GENETICS; HUMAN; IMMUNE SYSTEM; MAJOR HISTOCOMPATIBILITY COMPLEX; PRIORITY JOURNAL; REPRODUCIBILITY; REVIEW; SYSTEMIC LUPUS ERYTHEMATOSUS;

HUMANS; LINKAGE (GENETICS); LUPUS ERYTHEMATOSUS, SYSTEMIC;

EID: 19544373282     PISSN: 0889857X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rdc.2005.01.005     Document Type: Review

References (163)

1. A.L. Sestak, T.S. Shaver, and K.L. Moser Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree J Rheumatol 26 7 1999 1495 1499
2. D. Deapen, A. Escalante, and L. Weinrib A revised estimate of twin concordance in systemic lupus erythematosus Arthritis Rheum 35 3 1992 311 318
3. M. Reichlin, J.B. Harley, and M.D. Lockshin Serologic studies of monozygotic twins with systemic lupus erythematosus Arthritis Rheum 35 4 1992 457 464
4. E. Lander, and L. Kruglyak Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results Nat Genet 11 3 1995 241 247
5. N. Risch, and K. Merikangas The future of genetic studies of complex human diseases Science 273 5281 1996 1516 1517
6. N. Risch Searching for genes in complex diseases: lessons from systemic lupus erythematosus J Clin Invest 105 11 2000 1503 1506
7. J. Altmuller, L.J. Palmer, and G. Fischer Genome-wide scans of complex human diseases: true linkage is hard to find Am J Hum Genet 69 2001 936 950
8. J.A. Kelly, K.L. Moser, and J.B. Harley The genetics of systemic lupus erythematosus: putting the pieces together Genes Immun 3 Suppl 1 2002 S71 S85
9. B.P. Tsao The genetics of human systemic lupus erythematosus Trends Immunol 24 11 2003 595 602
10. K.L. Moser, B.R. Neas, and J.E. Salmon Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees Proc Natl Acad Sci U S A 95 25 1998 14869 14874
11. J.C. Edberg, C.D. Langefeld, and J. Wu Genetic linkage and association of Fc gamma receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus Arthritis Rheum 46 8 2002 2132 2140
12. J.E. Salmon, S. Millard, and L.A. Schachter Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African-Americans J Clin Invest 97 5 1996 1348 1354
13. F.B. Karassa, T.A. Trikalinos, and J.P. Ioannidis Role of the Fc gamma receptor IIa polymorphism in susceptibility to systemic lupus erythematosus and lupus nephritis: a meta-analysis Arthritis Rheum 46 6 2002 1563 1571
14. F.B. Karassa, T.A. Trikalinos, and J.P. Ioannidis The Fc gamma RIIIA-F158 allele is a risk factor for the development of lupus nephritis: a meta-analysis Kidney Int 63 4 2003 1475 1482
15. V. Magnusson, B. Johanneson, and G. Lima SLE Genetics Collaboration Group. Both risk alleles for Fc gamma RIIA and Fc gamma RIIIA are susceptibility factors for SLE: a unifying hypothesis Genes Immun 5 2 2004 130 137
16. A.I. Quintero-del-Rio, J.A. Kelly, and J. Kilpatrick The genetics of systemic lupus erythematosus stratified by renal disease: linkage at 10q22.3 (SLEN1), 2q34-35 (SLEN2), and 11p15.6 (SLEN3) Genes Immun 3 Suppl 1 2002 S57 S62
17. A.I. Quintero-del-Rio, J.A. Kelly, and C.P. Garriott SLEN2 (2q34-35) and SLEN1 (10q22.3) replication in systemic lupus erythematosus stratified by nephritis Am J Hum Genet 75 2004 346 348
18. L. Prokunina, C. Castillejo-Lopez, and F. Oberg A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans Nat Genet 32 4 2002 666 669
19. L. Prokunina, I. Gunnarsson, and G. Sturfelt The systemic lupus erythematosus-associated PDCD1 polymorphism PD1.3A in lupus nephritis Arthritis Rheum 50 1 2004 327 328
20. A.K. Lindqvist, K. Steinsson, and B. Johanneson A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q J Autoimmun 14 2 2000 169 178
21. C. Gray-McGuire, K.L. Moser, and P.M. Gaffney Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epitasis at 4p16-15.2 Am J Hum Genet 67 6 2000 1460 1469
22. J.A. Kelly, A.L. Sestak, and J. Kilpatrick Confirmation of susceptibility loci at 1q22-23, 4p16-15 and 11p13 in pedigrees multiplex for systemic lupus erythematosus Arthritis Rheum 48 2003 S225
23. A.L. Sestak, J.A. Kelly, and C. Gray-McGuire Confirmation of the 4p16 Linkage to SLE Arthritis Rheum 48 2003 3648
24. B. Namjou, S.K. Nath, and J. Kilpatrick Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3 Arthritis Rheum 46 11 2002 2937 2945
25. S.K. Nath, B. Namjou, and C.P. Garriott Linkage analysis of SLE susceptibility: confirmation of SLER1 at 5p15.3 Genes Immun 5 2004 209 214
26. R.R. Graham, W.A. Ortmann, and C.D. Langefeld Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus Am J Hum Genet 71 3 2002 543 553
27. J.A. Kelly, K. Thompson, and J. Kilpatrick Evidence for a susceptibility gene (SLEH1) on chromosome 11q14 for systemic lupus erythematosus (SLE) families with hemolytic anemia Proc Natl Acad Sci U S A 99 18 2002 11766 11771
28. J.A. Kelly, S. Shadfar, and K.M. Kaufman Confirmation and localization of SLEH1 on 11q14 in African-American pedigrees with hemolytic anemia and multiplex for SLE Abstracts for Lupus 2004 S258
29. S.K. Nath, A.I. Quintero-Del-Rio, and J. Kilpatrick Linkage at 12q24 with systemic lupus erythematosus (SLE) is established and confirmed in Hispanic and European-American families Am J Hum Genet 74 1 2004 73 82
30. P.M. Gaffney, G.M. Kearns, and K.B. Shark A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families Proc Natl Acad Sci U S A 95 25 1998 14875 14879
31. P.M. Gaffney, W.A. Ortmann, and S.A. Selby Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families Am J Hum Genet 66 2 2000 547 556
32. S.K. Nath, B. Namjou, and D. Hutchings Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity Eur J Hum Genet 12 2004 668 672
33. Feng X.B., Shen N., Chen S.L., et al. Susceptibility gene of systemic lupus erythematosus in 16q12 in Chinese cohort. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2003;20(1):27-30
34. S.K. Nath, J.A. Kelly, and B. Namjou Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus Am J Hum Genet 69 6 2001 1401 1406
35. R.M. Halder, and P.K. Nootheti Ethnic skin disorders overview J Am Acad Dermatol 48 Suppl 6 2003 S143 S148
36. R.A. Spritz, K. Gowan, and D.C. Bennett Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis Am J Hum Genet 74 1 2004 188 191
37. K.K. Kidd, and J. Ott Power and sample size in linkage studies Cytogenet Cell Genet 37 1984 510 511
38. J. Ott Analysis of human genetic linkage 3rd edition 1999 Johns Hopkins University Press Baltimore (MD)
39. S.M. Leal, and J. Ott Effects of stratification in the analysis of affected-sib-pair data: benefits and costs Am J Hum Genet 66 2000 567 575
40. C.M. Johansson, R. Zunec, and M.A. Garcia Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus Hum Genet 115 2004 230 238
41. F.C. Grumet, A. Coukell, and J.G. Bodmer Histocompatibility (HL-A) antigens associated with systemic lupus erythematosus. A possible genetic predisposition to disease N Engl J Med 285 1971 193 196
42. K.E. Sullivan, and J.A. Winkelstein Genetically determined deficiencies of the complement system H. Ochs C. Smith J. Puck Primary immunodeficiency diseases: a molecular and genetic approach 1999 Oxford University Press New York 397 416
43. K.E. Sullivan, M.A. Petri, and B.J. Schmeckpeper Prevalence of a mutation-causing C2 deficiency in systemic lupus erythematosus J Rheumatol 21 6 1994 1128 1133
44. V. Agnello Association of systemic lupus erythematosus and SLE-like syndromes with hereditary and acquired complement deficiency states Arthritis Rheum 21 Suppl 5 1978 S146 S152
45. C.A. Johnson, P. Densen, and R.K. Hurford Jr Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing J Biol Chem 267 13 1992 9347 9353
46. L. Truedsson, C.A. Alper, and Z.L. Awdeh Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complotype/HLA-B-region and absence of disease association due to linked class II genes J Immunol 151 10 1993 5856 5863
47. G. Hauptmann, G. Tappeiner, and J.A. Schifferli Inherited deficiency of the fourth component of human complement Immunodefic Rev 1 1 1988 3 22
48. K. Hartung, M.P. Baur, and R. Coldewey Major histocompatibility complex haplotypes and complement C4 alleles in systemic lupus erythematosus. Results of a multicenter study J Clin Invest 90 4 1992 1346 1351
49. J. Zhang, R. Ai, and F. Chow The polymorphisms of HLA-DR and TNF B loci in northern Chinese Han nationality and susceptibility to systemic lupus erythematosus Chin Med Sci J 12 2 1997 107 110
50. H.Y. Kim, S.H. Lee, and H.I. Yang TNFB gene polymorphism in patients with systemic lupus erythematosus in Korean Korean J Intern Med 10 2 1995 130 136
51. M.P. Bettinotti, K. Hartung, and H. Deicher Polymorphism of the tumor necrosis factor β gene in systemic lupus erythematosus: TNFβ-MHC haplotypes Immunogenetics 37 6 1993 449 454
52. Y. Wang, Y. Zhang, and S. Zhu The association of susceptibility of SLE and the gene polymorphism of TNF Zhonghua Yi Xue Za Zhi 78 2 1998 111 114
53. S. Kanagawa, A. Morinobu, and M. Koshiba Association of the TAP2*Bky2 allele with presence of SS-A/Ro and other autoantibodies in Japanese patients with systemic lupus erythematosus Lupus 12 4 2003 258 265
54. F. Takeuchi, K. Nakano, and H. Nabeta Polymorphisms of the TAP1 and TAP2 transporter genes in Japanese SLE Ann Rheum Dis 55 12 1996 924 926
55. E.J. Davies, R.P. Donn, and M.C. Hillarby Polymorphisms of the TAP2 transporter gene in systemic lupus erythematosus Ann Rheum Dis 53 1 1994 61 63
56. L. Ocal, K. Russell, and H. Beynon Genetic analysis of TAP2 in systemic lupus erythematosus patients from two ethnic groups Br J Rheumatol 35 6 1996 529 533
57. P.A. Correa, J.F. Molina, and L.F. Pinto TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus Ann Rheum Dis 62 4 2003 363 365
58. J.M. Martin-Villa, J. Martinez-Laso, and M.A. Moreno-Pelayo Differential contribution of HLA-DR, DQ, and TAP2 alleles to systemic lupus erythematosus susceptibility in Spanish patients: role of TAP2*01 alleles in Ro autoantibody production Ann Rheum Dis 57 4 1998 214 219
59. A.G. Wilson, C. Gordon, and F.S. di Giovine A genetic association between systemic lupus erythematosus and tumor necrosis factor alpha Eur J Immunol 24 1 1994 191 195
60. B.P. Tsao, R.M. Cantor, and K.C. Kalunian Evidence for linkage of a candidate chromosome 1 region to human systemic lupus erythematosus J Clin Invest 99 4 1997 725 731
61. B.P. Tsao, R.M. Cantor, and J.M. Grossman PARP alleles within the linked chromosomal region are associated with systemic lupus erythematosus J Clin Invest 103 8 1999 1135 1140
62. O. Delrieu, M. Michel, and C. Frances Poly(ADP-ribose) polymerase alleles in French Caucasians are associated neither with lupus nor with primary antiphospholipid syndrome. GRAID Research Group. Group for Research on Auto-Immune Disorders Arthritis Rheum 42 10 1999 2194 2197
63. L.A. Criswell, K.L. Moser, and P.M. Gaffney PARP alleles and SLE: failure to confirm association with disease susceptibility J Clin Invest 105 11 2000 1501 1502
64. M.C. Ku, S. Stewart, and A. Hata Poly(ADP-ribose) polymerase 1 interacts with OAZ and regulates BMP-target genes Biochem Biophys Res Commun 311 3 2003 702 707
65. A.I. Berkel, E. Birben, and C. Oner Molecular, genetic and epidemiologic studies on selective complete C1q deficiency in Turkey Immunobiology 201 2000 347 355
66. D.J. Crosdale, W.E. Ollier, and W. Thomson Mannose binding lectin (MBL) genotype distributions with relation to serum levels in UK Caucasoids Eur J Immunogenet 27 3 2000 111 117
67. C.G. Parks, G.S. Cooper, and M.A. Dooley Systemic lupus erythematosus and genetic variation in the interleukin 1 gene cluster: a population-based study in the southeastern United States Ann Rheum Dis 63 1 2004 91 94
68. C.M. Huang, M.C. Wu, and J.Y. Wu Interleukin-1 receptor antagonist gene polymorphism in Chinese patients with systemic lupus erythematosus Clin Rheumatol 21 3 2002 255 257
69. F. Tjernstrom, G. Hellmer, and O. Nived Synergetic effect between interleukin-1 receptor antagonist allele (IL1RN*2) and MHC class II (DR17,DQ2) in determining susceptibility to systemic lupus erythematosus Lupus 8 2 1999 103 108
70. A.I. Blakemore, J.K. Tarlow, and M.J. Cork Interleukin-1 receptor antagonist gene polymorphism as a disease severity factor in systemic lupus erythematosus Arthritis Rheum 37 9 1994 1380 1385
71. S. D'Alfonso, M. Rampi, and D. Bocchio Systemic lupus erythematosus candidate genes in the Italian population: evidence for a significant association with interleukin-10 Arthritis Rheum 43 1 2000 120 128
72. J. Heward, A. Allahabadia, and C. Gordon The interleukin-1 receptor antagonist gene shows no allelic association with three autoimmune diseases Thyroid 9 6 1999 627 628
73. V.A. Danis, M. Millington, and Q. Huang Lack of association between an interleukin-1 receptor antagonist gene polymorphism and systemic lupus erythematosus Dis Markers 12 2 1995 135 139
74. A.W. Gibson, J.C. Edberg, and J. Wu Novel single nucleotide polymorphisms in the distal IL-10 promoter affect IL-10 production and enhance the risk of systemic lupus erythematosus J Immunol 166 6 2001 3915 3922
75. R. Mehrian, F.P. Quismorio Jr, and G. Strassmann Synergistic effect between IL-10 and bcl-2 genotypes in determining susceptibility to systemic lupus erythematosus Arthritis Rheum 41 4 1998 596 602
76. J. Eskdale, P. Wordsworth, and S. Bowman Association between polymorphisms at the human IL-10 locus and systemic lupus erythematosus Tissue Antigens 49 6 1997 635 639
77. S. D'Alfonso, M. Giordano, and M. Mellai Association tests with systemic lupus erythematosus (SLE) of IL-10 markers indicate a direct involvement of a CA repeat in the 5′ regulatory region Genes Immun 3 8 2002 454 463
78. E. Crawley, P. Woo, and D.A. Isenberg Single nucleotide polymorphic haplotypes of the interleukin-10 5′ flanking region are not associated with renal disease or serology in Caucasian patients with systemic lupus erythematosus Arthritis Rheum 42 9 1999 2017 2018
79. M.E. Alarcon-Riquelme, A.K. Lindqvist, and I. Jonasson Genetic analysis of the contribution of IL10 to systemic lupus erythematosus J Rheumatol 26 10 1999 2148 2152
80. C.C. Mok, J.S. Lanchbury, and D.W. Chan Interleukin-10 promoter polymorphisms in southern Chinese patients with systemic lupus erythematosus Arthritis Rheum 41 6 1998 1090 1095
81. L. Llorente, Y. Richaud-Patin, and J. Couderc Dysregulation of interleukin-10 production in relatives of patients with systemic lupus erythematosus Arthritis Rheum 40 8 1997 1429 1435
82. B.H. Rovin, L. Lu, and X. Zhang A novel interleukin-8 polymorphism is associated with severe systemic lupus erythematosus nephritis Kidney Int 62 1 2002 261 265
83. S. Kanemitsu, A. Takabayashi, and Y. Sasaki Association of interleukin-4 receptor and interleukin-4 promoter gene polymorphisms with systemic lupus erythematosus Arthritis Rheum 42 6 1999 1298 1300
84. M. Linker-Israeli, D.J. Wallace, and J. Prehn Association of IL-6 gene alleles with systemic lupus erythematosus (SLE) and with elevated IL-6 expression Genes Immun 1 1 1999 45 52
85. H. Schotte, B. Schluter, and S. Rust Interleukin-6 promoter polymorphism (-174 G/C) in Caucasian German patients with systemic lupus erythematosus Rheumatology (Oxford) 40 4 2001 393 400
86. A. Csiszar, G. Nagy, and P. Gergely Increased interferon-gamma (IFN-gamma), IL-10 and decreased IL-4 mRNA expression in peripheral blood mononuclear cells (PBMC) from patients with systemic lupus erythematosus (SLE) Clin Exp Immunol 122 3 2000 464 470
87. J.Y. Lee, D. Goldman, and L.M. Piliero Interferon-gamma polymorphisms in systemic lupus erythematosus Genes Immun 2 5 2001 254 257
88. Y. Tanaka, H. Nakashima, and C. Hisano Association of the interferon-gamma receptor variant (Val14Met) with systemic lupus erythematosus Immunogenetics 49 4 1999 266 271
89. H. Nakashima, H. Inoue, and M. Akahoshi The combination of polymorphisms within interferon-gamma receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus FEBS Lett 453 1999 187 190
90. C. Morita, T. Horiuchi, and H. Tsukamoto Association of tumor necrosis factor receptor type II polymorphism 196R with systemic lupus erythematosus in the Japanese: molecular and functional analysis Arthritis Rheum 44 12 2001 2819 2827
91. M. Takahashi, H. Hashimoto, and M. Akizuki Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese Tissue Antigens 57 1 2001 66 69
92. E.K. Wakeland, A.E. Wandstrat, and K. Liu Genetic dissection of systemic lupus erythematosus Curr Opin Immunol 11 6 1999 701 707
93. M. Nose, M. Nishihara, and J. Kamogawa Genetic basis of autoimmune disease in MRL/lpr mice: dissection of the complex pathological manifestations and their susceptibility loci Rev Immunogenet 2 1 2000 154 164
94. F. Rieux-Laucat, F. Le Deist, and A. Fischer Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways Cell Death Differ 10 1 2003 124 133
95. J. Wu, J. Wilson, and J. He Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease J Clin Invest 98 5 1996 1107 1113
96. I. Cascino, C. Ballerini, and S. Audino Fas gene polymorphisms are not associated with systemic lupus erythematosus, multiple sclerosis and HIV infection Dis Markers 13 4 1998 221 225
97. Q.R. Huang, and N. Manolios Investigation of the -1377 polymorphism on the Apo-1/Fas promoter in systemic lupus erythematosus patients using allele-specific amplification Pathology 32 2 2000 126 130
98. J. Wu, C. Metz, and X. Xu A novel polymorphic CAAT/enhancer-binding protein beta element in the FasL gene promoter alters Fas ligand expression: a candidate background gene in African-American systemic lupus erythematosus patients J Immunol 170 1 2003 132 138
99. Q.R. Huang, V. Danis, and M. Lassere Evaluation of a new Apo-1/Fas promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus patients Rheumatology (Oxford) 38 7 1999 645 651
100. H. Wu, N. Shen, and Y. Gu Association between Bcl-2 gene polymorphism with systemic lupus erythematosus Zhonghua Yi Xue Za Zhi 82 7 2002 467 470
101. C. Johansson, C. Castillejo-Lopez, and B. Johanneson Association analysis with microsatellite and SNP markers does not support the involvement of BCL-2 in systemic lupus erythematosus in Mexican and Swedish patients and their families Genes Immun 1 6 2000 380 385
102. Q.R. Huang, D. Morris, and N. Manolios Evaluation of the BCL-2 gene locus as a susceptibility locus linked to the clinical expression of systemic lupus erythematosus (SLE) Rheumatol Int 16 3 1996 121 124
103. T. Koyama, H. Tsukamoto, and K. Masumoto A novel polymorphism of the human APRIL gene is associated with systemic lupus erythematosus Rheumatology (Oxford) 42 8 2003 980 985
104. A. Kawasaki, N. Tsuchiya, and T. Fukazawa Analysis on the association of human BLYS (BAFF, TNFSF13B) polymorphisms with systemic lupus erythematosus and rheumatoid arthritis Genes Immun 3 7 2002 424 429
105. K. Yasutomo, T. Horiuchi, and S. Kagami Mutation of DNASE1 in people with systemic lupus erythematosus Nat Genet 28 4 2001 313 314
106. M.F. Liu, C.R. Wang, and L.L. Fung No evidence of mutation in exon 2 of DNAse1 gene in Chinese patients with systemic lupus erythematosus Lupus 13 2 2004 142 143
107. B. Vaidya, and S. Pearce The emerging role of the CTLA-4 gene in autoimmune endocrinopathies Eur J Endocrinol 150 5 2004 619 626
108. M.F. Liu, C.R. Wang, and P.C. Chen Increased expression of soluble cytotoxic T-lymphocyte-associated antigen-4 molecule in patients with systemic lupus erythematosus Scand J Immunol 57 6 2003 568 572
109. M. Matsushita, N. Tsuchiya, and M. Shiota Lack of a strong association of CTLA-4 exon 1 polymorphism with the susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese: an association study using a novel variation screening method Tissue Antigens 54 6 1999 578 584
110. J. Heward, C. Gordon, and A. Allahabadia The A-G polymorphism in exon 1 of the CTLA-4 gene is not associated with systemic lupus erythematosus Ann Rheum Dis 58 3 1999 193 195
111. M.F. Liu, C.R. Wang, and L.C. Lin CTLA-4 gene polymorphism in promoter and exon-1 regions in Chinese patients with systemic lupus erythematosus Lupus 10 9 2001 647 649
112. Y.H. Lee, Y.R. Kim, and J.D. Ji Polymorphisms of the CTLA-4 exon 1 and promoter gene in systemic lupus erythematosus Lupus 10 9 2001 601 605
113. S. Ahmed, K. Ihara, and S. Kanemitsu Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population Rheumatology (Oxford) 40 6 2001 662 667
114. R. Pullmann Jr, J. Lukac, and M. Skerenova Cytotoxic T lymphocyte antigen 4 (CTLA-4) dimorphism in patients with systemic lupus erythematosus Clin Exp Rheumatol 17 6 1999 725 729
115. L.L. Hudson, K. Rocca, and Y.W. Song CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region Hum Genet 111 2002 452 455
116. L. Fernandez-Blanco, E. Perez-Pampin, and J.J. Gomez-Reino A CTLA-4 polymorphism associated with susceptibility to systemic lupus erythematosus Arthritis Rheum 50 1 2004 328 329
117. A.I. Russell, and D.S. Cunninghame Graham Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus Hum Mol Genet 13 1 2004 137 147
118. M.J. Citores, I. Rua-Figueroa, and C. Rodriguez-Gallego The dinucleotide repeat polymorphism in the 3′UTR of the CD154 gene has a functional role on protein expression and is associated with systemic lupus erythematosus Ann Rheum Dis 63 3 2004 310 317
119. H. Tsugu, R. Horowitz, and N. Gibson The location of a disease-associated polymorphism and genomic structure of the human 52-kDa Ro/SSA locus (SSA1) Genomics 24 3 1994 541 548
120. A.C. Forton, M.A. Petri, and D. Goldman An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus Hum Mutat 19 4 2002 459
121. K. Kuroki, N. Tsuchiya, and B.P. Tsao Polymorphisms of human CD19 gene: possible association with susceptibility to systemic lupus erythematosus in Japanese Genes Immun 3 Suppl 1 2002 S21 S30
122. M. Tucci, E.V. Barnes, and E.S. Sobel Strong association of a functional polymorphism in the monocyte chemoattractant protein 1 promoter gene with lupus nephritis Arthritis Rheum 50 6 2004 1842 1849
123. H.L. Kim, D.S. Lee, and S.H. Yang The polymorphism of monocyte chemoattractant protein-1 is associated with the renal disease of SLE Am J Kidney Dis 40 6 2002 1146 1152
124. F. Aguilar, M.F. Gonzalez-Escribano, and J. Sanchez-Roman MCP-1 promoter polymorphism in Spanish patients with systemic lupus erythematosus Tissue Antigens 58 5 2001 335 338
125. J.G. Tebib, J. Alcocer-Varela, and D. Alarcon-Segovia Association between a T-cell receptor restriction fragment length polymorphism and systemic lupus erythematosus J Clin Invest 86 6 1990 1961 1967
126. F. Morito, M. Hiida, and A. Ohta Genetic analysis of systemic lupus erythematosus: association with a T cell receptor restriction fragment length polymorphism in Japanese patients Intern Med 31 8 1992 998 1003
127. M.P. Nambiar, E.J. Enyedy, and V.G. Warke T cell signaling abnormalities in systemic lupus erythematosus are associated with increased mutations/polymorphisms and splice variants of T cell receptor zeta chain messenger RNA Arthritis Rheum 44 6 2001 1336 1350
128. P.M. Yang, N.J. Olsen, and K.A. Siminovitch Possible deletion of a developmentally regulated heavy-chain variable region gene in autoimmune diseases Proc Natl Acad Sci U S A 87 20 1990 7907 7911
129. S. Whittingham, J.D. Mathews, and M.S. Schanfield HLA and Gm genes in systemic lupus erythematosus Tissue Antigens 21 1 1983 50 57
130. A. Kumar, C. Martinez-Tarquino, and A. Maria-Forte Immunoglobulin heavy chain constant-region gene polymorphism in systemic lupus erythematosus Arthritis Rheum 34 12 1991 1553 1556
131. R.G. Queiroz, M.C. Tamia-Ferreira, and I.F. Carvalho Association between EcoRI fragment-length polymorphism of the immunoglobulin lambda variable 8 (IGLV8) gene family with rheumatoid arthritis and systemic lupus erythematosus Braz J Med Biol Res 34 4 2001 525 528
132. E.N. Kassi, P.G. Vlachoyiannopoulos, and H.M. Moutsopoulos Molecular analysis of estrogen receptor alpha and beta in lupus patients Eur J Clin Invest 31 1 2001 86 93
133. Z.H. Liu, Z.H. Cheng, and R.J. Gong Sex differences in estrogen receptor gene polymorphism and its association with lupus nephritis in Chinese Nephron 90 2 2002 174 180
134. A. Stevens, D. Ray, and A. Alansari Characterization of a prolactin gene polymorphism and its associations with systemic lupus erythematosus Arthritis Rheum 44 10 2001 2358 2366
135. M. Mellai, M. Giordano, and S. D'Alfonso Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus Hum Immunol 64 2 2003 274 284
136. Y. Ozaki, S. Nomura, and M. Nagahama Vitamin-D receptor genotype and renal disorder in Japanese patients with systemic lupus erythematosus Nephron 85 1 2000 86 91
137. C.M. Huang, M.C. Wu, and J.Y. Wu Association of vitamin D receptor gene BsmI polymorphisms in Chinese patients with systemic lupus erythematosus Lupus 11 1 2002 31 34
138. C.M. Huang, M.C. Wu, and J.Y. Wu No association of vitamin D receptor gene start codon fok 1 polymorphisms in Chinese patients with systemic lupus erythematosus J Rheumatol 29 6 2002 1211 1213
139. W. Ollier, E. Davies, and N. Snowden Association of homozygosity for glutathione-S-transferase GSTM1 null alleles with the Ro + /La- autoantibody profile in patients with systemic lupus erythematosus Arthritis Rheum 39 10 1996 1763 1764
140. M.B. Tew, C.W. Ahn, and A.W. Friedman Systemic lupus erythematosus in three ethnic groups. VIII. Lack of association of glutathione S-transferase null alleles with disease manifestations Arthritis Rheum 44 4 2001 981 983
141. J.C. Oates, M.C. Levesque, and M.R. Hobbs Nitric oxide synthase 2 promoter polymorphisms and systemic lupus erythematosus in African-Americans J Rheumatol 30 1 2003 60 67
142. M.A. Lopez-Nevot, L. Ramal, and J. Jimenez-Alonso The inducible nitric oxide synthase promoter polymorphism does not confer susceptibility to systemic lupus erythematosus Rheumatology (Oxford) 42 1 2003 113 116
143. R. Goldstein, F.C. Arnett, and R.H. McLean Molecular heterogeneity of complement component C4-null and 21-hydroxylase genes in systemic lupus erythematosus Arthritis Rheum 31 6 1988 736 744
144. S. von Schmiedeberg, E. Fritsche, and A.C. Ronnau Polymorphisms of the xenobiotic-metabolizing enzymes CYP1A1 and NAT-2 in systemic sclerosis and lupus erythematosus Adv Exp Med Biol 455 1999 147 152
145. P. Zschieschang, F. Hiepe, and E. Gromnica-Ihle Lack of association between arylamine N-acetyltransferase 2 (NAT2) polymorphism and systemic lupus erythematosus Pharmacogenetics 12 7 2002 559 563
146. G.S. Cooper, E.L. Treadwell, and M.A. Dooley N-acetyl transferase genotypes in relation to risk of developing systemic lupus erythematosus J Rheumatol 31 1 2004 76 80
147. A. Parsa, E. Peden, and R.F. Lum Association of angiotensin-converting enzyme polymorphisms with systemic lupus erythematosus and nephritis: analysis of 644 SLE families Genes Immun 3 Suppl 1 2002 S42 S46
148. I. Prkacin, B. Novak, and J. Sertic Angiotensin-converting enzyme gene polymorphism in patients with systemic lupus Acta Med Croatica 55 2 2001 73 76
149. R. Pullmann Jr, J. Lukac, and M. Skerenova Association between systemic lupus erythematosus and insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene Clin Exp Rheumatol 17 5 1999 593 596
150. K.M. Kaufman, J. Kelly, and C. Gray-McGuire Linkage analysis of angiotensin-converting enzyme (ACE) insertion/deletion polymorphism and systemic lupus erythematosus Mol Cell Endocrinol 177 2001 81 85
151. Y. Molad, E. Gal, and N. Magal Renal outcome and vascular morbidity in systemic lupus erythematosus (SLE): lack of association with the angiotensin-converting enzyme gene polymorphism Semin Arthritis Rheum 30 2 2000 132 137
152. I.O. Tassiulas, I. Aksentijevich, and J.E. Salmon Angiotensin I converting enzyme gene polymorphisms in systemic lupus erythematosus: decreased prevalence of DD genotype in African American patients Clin Nephrol 50 1 1998 8 13
153. Y. Akai, H. Sato, M. Iwano, N. Kurumatani, H. Kurioka, and A. Kubo Association of an insertion polymorphism of angiotensin-converting enzyme gene with the activity of lupus nephritis Clin Nephrol 51 3 1999 141 146
154. T. Guan, Z. Liu, and Z. Chen Angiotensin-converting enzyme gene polymorphism and the clinical pathological features and progression in lupus nephritis Zhonghua Nei Ke Za Zhi 36 7 1997 461 464
155. W.S. Uhm, H.S. Lee, and Y.H. Chung Angiotensin-converting enzyme gene polymorphism and vascular manifestations in Korean patients with SLE Lupus 11 4 2002 227 233
156. P. Sivera, S. Bosio, and M.T. Bertero G20210A homozygosity in antiphospholipid syndrome secondary to systemic lupus erythematosus Haematologica 85 1 2000 109 110
157. R. Gong, Z. Liu, and Z. Chen Genetic variations in plasminogen activator inhibitor-1 gene and beta fibrinogen gene associated with glomerular microthrombosis in lupus nephritis and the gene dosage effect Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19 1 2002 1 5
158. A.Y. Wang, P. Poon, and F.M. Lai Plasminogen activator inhibitor-1 gene polymorphism 4G/4G genotype and lupus nephritis in Chinese patients Kidney Int 59 4 2001 1520 1528
159. D. Tassies, G. Espinosa, and F.J. Munoz-Rodriguez The 4G/5G polymorphism of the type 1 plasminogen activator inhibitor gene and thrombosis in patients with antiphospholipid syndrome Arthritis Rheum 43 10 2000 2349 2358
160. B. Tolusso, M. Fabris, and E. Gremese Platelet GPIIb/IIIa (P1A 1/2) polymorphism in SLE: clinical and laboratory association Ann Rheum Dis 62 8 2003 781 782
161. C. Kyogoku, C.D. Langefeld, and W.A. Ortmann Genetic association of the R620W polymophism of protein tyrosine phosphatase PTPN22 with human SLE Am J Hum Genet 75 3 2004 504 507
162. S. Sigurdsson, G. Nordmark, and H.H. Goring Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus Am J Hum Genet 76 3 2005 528 537
163. B. Namjou, S.K. Nath, and J. Kilpatrick Genome scan stratified by the presence of anti-double-stranded DNA (dsDNA) autoantibody in pedigrees multiplex for systemic lupus erythematosus (SLE) establishes linkages at 19p13.2 (SLED1) and 18q21.1 (SLED2) Genes Immun 3S1 2002 S35 S41