Unraveling the genetics of systemic lupus erythematosus

Springer Seminars in Immunopathology

Volumn 28, Issue 2, 2006, Pages 119-130

  Harley, John B ^b   Kelly, Jennifer A ^b   Kaufman, Kenneth M ^a,b,c  

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

^b OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

Gene; Genetics; Lupus; Polymorphism; SLE

Indexed keywords

COMPLEMENT COMPONENT C1Q; FC RECEPTOR LIKE 3; INTERFERON REGULATORY FACTOR; INTERFERON REGULATORY FACTOR 5; PROGRAMMED CELL DEATH 1 PROTEIN; PROTEIN DERIVATIVE; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE NON RECEPTOR TYPE 22; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEREDITY; HLA SYSTEM; HUMAN GENOME; INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; SYSTEMIC LUPUS ERYTHEMATOSUS; TWINS;

ANIMALS; GENETIC LINKAGE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; LINKAGE (GENETICS); LUPUS ERYTHEMATOSUS, SYSTEMIC; POLYMORPHISM, GENETIC;

EID: 33749537076     PISSN: 03444325     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00281-006-0040-5     Document Type: Article

References (170)

1. Harvey AM, Shulman LE, Tumulty PA, Conley CL, Schoenrich EH (1954) Systemic lupus erythematosus: review of the literature and clinical analysis of 138 cases. Medicine 33:291-437
2. Ward MM (2005) Association between physician volume and in-hospital mortality in patients with systemic lupus erythematosus. Arthritis Rheum 52(6):1646-1654
3. Sacks JJ, Helmick CG, Langmaid G, Sniezek JE (2002) Trends in deaths from systemic lupus erythematosus, United States, 1979-1998. MMWR Morb Mortal Wkly Rep 51(17):371-374
4. Grumet FC, Coukell A, Bodmer JG, Bodmer WF, McDevitt HO (1971) Histocompatibility (HL-A) antigens associated with systemic lupus erythematosus. A possible genetic predisposition to disease. N Engl J Med 285:193-196
5. Alarcon-Segovia D, Alarcon-Riquelme ME, Cardiel MH, Caeiro F, Massardo L, Villa AR, Pons-Estel BA; Grupo Latinoamericano de Estudio del Lupus Eritematoso (GLADEL) (2005) Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum 52(4):1138-1147
6. Risch N, Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273(5281):1516-1517
7. Fielder AH, Walport MJ, Batchelor JR, Rynes RI, Black CM, Dodi IA, Hughes GR (1983) Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility. Br Med J (Clin Res Ed) 286(6363):425-428
8. Reveille JD, Arnett FC, Wilson RW, Bias WB, McLean RH (1985) Null alleles of the fourth component of complement and HLA haplotypes in familial systemic lupus erythematosus. Immunogenetics 21:299-311
9. Arnett FC, Goldstein R, Duvic M, Reveille JD (1988) Major histocompatibility complex genes in systemic lupus erythematosus, Sjogren's syndrome, and polymyositis. Am J Med 85:38-41
10. Green JR, Montasser M, Woodrow JC (1986) The association of HLA-linked genes with systemic lupus erythematosus. Ann Hum Genet 50(Pt 1):93-96
11. Hawkins BR, Wong KL, Wong RW, Chan KH, Dunckley H, Serjeantson SW (1987) Strong association between the major histocompatibility complex and systemic lupus erythematosus in southern Chinese. J Rheumatol 14(6):1128-1131
12. Schur PH, Marcus-Bagley D, Awdeh Z, Yunis EJ, Alper CA (1990) The effect of ethnicity on major histocompatibility complex complement allotypes and extended haplotypes in patients with systemic lupus erythematosus. Arthritis Rheum 33:985-992
13. Howard PF, Hochberg MC, Bias WB, Arnett FC Jr, McLean RH (1986) Relationship between C4 null genes, HLA-D region antigens, and genetic susceptibility to systemic lupus erythematosus in Caucasian and black Americans. Am J Med 81:187-193
14. Cowland JB, Andersen V, Halberg P, Morling N (1994) DNA polymorphism of HLA class II genes in systemic lupus erythematosus. Tissue Antigens 43(1):34-37
15. Yao Z, Kimura A, Hartung K, Haas PJ, Volgger A, Brunnler G, Bonisch J, Albert ED (1993) Polymorphism of the DQA1 promoter region (QAP) and DRB1, QAP, DQA1, DQB1 haplotypes in systemic lupus erythematosus. SLE Study Group members. Immunogenetics 38(6):421-429
16. Reinersten JL, Klippel JH, Johnson AH, Steinberg AD, Decker JL, Mann DL (1982) Family studies of B lymphocyte alloantigens in systemic lupus erythematosus. J Rheumatol 9:253-262
17. Black CM, Welsh KI, Fielder A, Hughes GR, Batchelor JR (1982) HLA antigens and Bf allotypes in SLE: evidence for the association being with specific haplotypes. Tissue Antigens 19:115-120
18. Petry F, Berkel AI, Loos M (1997) Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis. Hum Genet 100(1):51-56
19. Miura-Shimura Y, Nakamura K, Ohtsuji M, Tomita H, Jiang Y, Abe M, Zhang D, Hamano Y, Tsuda H, Hashimoto H, Nishimura H, Taki S, Shirai T, Hirose S (2002) C1q regulatory region polymorphism down-regulating murine c1q protein levels with linkage to lupus nephritis. J Immunol 169(3):1334-1339
20. Racila DM, Sontheimer CJ, Sheffield A, Wisnieski JJ, Racila E, Sontheimer RD (2003) Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus. Lupus 12(2):124-132
21. Edberg JC, Langefeld CD, Wu J, Moser KL, Kaufman K, Kelly J, Bansal V, Brown WM, Salmon JE, Rich SS, Harley JB, Kimberly RP (2002) Genetic linkage and association of Fcγ receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus. Arthritis Rheum 46:2132-2140
22. Zuniga R, Ng S, Peterson MG, Reveille JD, Baethge BA, Alarcon GS, Salmon JE (2001) Low-binding alleles of Fcgamma receptor types IIA and IIIA are inherited independently and are associated with systemic lupus erythematosus in Hispanic patients. Arthritis Rheum 44:361-367
23. Kyogoku C, Dijstelbloem HM, Tsuchiya N, Hatta Y, Kato H, Yamaguchi A, Fukazawa T, Jansen MD, Hashimoto H, van de Winkel JG, Kallenberg CG, Tokunaga K (2002) Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility. Arthritis Rheum 46:1242-1254
24. Manger K, Repp R, Jansen M, Geisselbrecht M, Wassmuth R, Westerdaal NA, Pfahlberg A, Manger B, Kalden JR, van de Winkel JG (2002) Fcgamma receptor IIa, IIIa, and IIIb polymorphisms in German patients with systemic lupus erythematosus: association with clinical symptoms. Ann Rheum Dis 61:786-792
25. Duits AJ, Bootsma H, Derksen RH, Spronk PE, Kater L, Kallenberg CG, Capel PJ, Westerdaal NA, Spierenburg GT, Gmelig-Meyling FH (1995) Skewed distribution of IgG Fc receptor IIa (CD32) polymorphism is associated with renal disease in systemic lupus erythematosus patients. Arthritis Rheum 38:1832-1836
26. Salmon JE, Millard S, Schachter LA, Arnett FC, Ginzler EM, Gourley MF, Ramsey-Goldman R, Peterson MG, Kimberly RP (1996) Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. J Clin Invest 97:1348-1354
27. Sato H, Iwano M, Akai Y, Nishino T, Fujimoto T, Shiiki H, Dohi K (2001) FcgammaRIIa polymorphism in Japanese patients with systemic lupus erythematosus. Lupus 10:97-101
28. Karassa FB, Trikalinos TA, Ioannidis JP (2002) Role of the Fcgamma receptor IIa polymorphism in susceptibility to systemic lupus erythematosus and lupus nephritis: a meta-analysis. Arthritis Rheum 46:1563-1571
29. Kaufman KM, Kelly JA, Herring BJ, Adler AJ, Glenn SB, Namjou B, Frank SG, Dawson SL, Bruner GR, James JA, Harley JB (2006) Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic SLE. Arthritis Rheum 54(8):2533-2540
30. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser KL, Begovich AB, Carlton VEH, Li W, Lee AT, Ortmann W, Behrens TW, Gregersen PK (2005) Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 76:561-571
31. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VEH, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW (2004) Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 75:504-507
32. Prasad Linga Reddy MV, Johansson M, Sturfelt G, Jonsen A, Gunnarsson I, Svenungsson E, Rantapaa-Dahlqvist S, Alarcon-Riquelme ME (2005) The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes Immun 6:658-662
33. Gomez LM, Anaya JM, Gonzalez CI, Pineda-Tamayo R, Otero W, Arango A, Martin J (2005) PTPN22 C1858T polymorphism in Colombian patients with autoimmune disease. Genes Immun 6:628-631
34. Kochi Y, Yamada R, Suzuki A, Harley JB, Shirasawa S, Sawada T, Bae SC, Tokuhiro S, Chang X, Sekine A, Takahashi A, Tsunoda T, Ohnishi Y, Kaufman KM, Kang CP, Kang C, Otsubo S, Yumura W, Mimori A, Koike T, Nakamura Y, Sasazuki T, Yamamoto K (2005) A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet 37(5):478-485
35. Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G, Jonsen A, Rantapaa-Dahlqvist S, Moller B, Kere J, Koskenmies S, Widen E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Ronnblom L, Syvanen AC (2005) Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 76(3):528-537
36. Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Gonzalez Escribano MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martin J, Altshuler D, Behrens TW, Alarcon-Riquelme ME; Argentine and Spanish Collaborative Groups (2006) 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 38(5):550-555
37. Smerdel-Ramoya A, Finholt C, Lilleby V, Gilboe IM, Harbo HF, Maslinski S, Forre O, Thorsby E, Lie BA (2005) Systemic lupus erythematosus and the extended major histocompatibility complex-evidence for several predisposing loci. Rheumatology (Oxford) 44(11):1368-1373
38. McHugh NJ, Owen P, Cox B, Dunphy J, Welsh K (2006) MHC class II, tumour necrosis factor alpha, and lymphotoxin alpha gene haplotype associations with serological subsets of systemic lupus erythematosus. Ann Rheum Dis 65(4):488-494
39. Celada A, Barras C, Benzonana G, Jeannet M (1980) Increased frequency of HLA-DRw3 in systemic lupus erythematosus. Tissue Antigens 15(3):283-288
40. Dunckley H, Gatenby PA, Serjeantson SW (1986) DNA typing of HLA-DR antigens in systemic lupus erythematosus. Immunogenetics 24(3):158-162
41. Gomez-Reino JJ, Martinez-Laso J, Vicario JL, Paz-Artal E, Aragon A, Martin-Villa JM, De Juan MD, Perez-Aciego P, Arnaiz-Villena A (1991) Immunogenetics of systemic lupus erythematosus in Spanish patients: differential HLA markers. Immunobiology 182(5):465-471
42. Reinharz D, Tiercy JM, Mach B, Jeannet M (1991) Absence of DRw15/3 and of DRw15/7 heterozygotes in Caucasian patients with systemic lupus erythematosus. Tissue Antigens 37(1):10-15
43. Reveille JD, Moulds JM, Ahn C, Friedman AW, Baethge B, Roseman J, Straaton KV, Alarcon GS (1998) Systemic lupus erythematosus in three ethnic groups. I. The effects of HLA class II, C4, and CR1 alleles, socioeconomic factors, and ethnicity at disease onset. LUMINA Study Group. Lupus in minority populations, nature versus nurture. Arthritis Rheum 41(7):1161-1172
44. Ruuska P, Hameenkorpi R, Forsberg S, Julkunen H, Makitalo R, Ilonen J, Tiilikainen A (1992) Differences in HLA antigens between patients with mixed connective tissue disease and systemic lupus erythematosus. Ann Rheum Dis 51(1):52-55
45. Olsen ML, Goldstein R, Arnett FC, Duvic M, Pollack M, Reveille JD (1989) C4A gene deletion and HLA associations in black Americans with systemic lupus erythematosus. Immunogenetics 30(1):27-33
46. Dunckley H, Gatenby PA, Hawkins B, Naito S, Serjeantson SW (1987) Deficiency of C4A is a genetic determinant of systemic lupus erythematosus in three ethnic groups. J Immunogenet 14(4-5):209-218
47. Hawkins BR, Wong KL, Wong RW, Chan KH, Dunckley H, Serjeantson SW (1987) Strong association between the major histocompatibility complex and systemic lupus erythematosus in southern Chinese. J Rheumatol 14(6):1128-1131
48. Man XY, Luo HR, Li XP, Yao YG, Mao CZ, Zhang YP (2003) Polymerase chain reaction based C4AQ0 and C4BQ0 genotyping: association with systemic lupus erythematosus in southwest Han Chinese. Ann Rheum Dis 62(1):71-73
49. Ayed K, Gorgi Y, Ayed-Jendoubi S, Bardi R (2004) The involvement of HLA-DRB1*, DQA1*, DQB1*and complement C4A loci in diagnosing systemic lupus erythematosus among Tunisians. Ann Saudi Med 24(1):31-35
50. van der Linden MW, van der Slik AR, Zanelli E, Giphart MJ, Pieterman E, Schreuder GM, Westendorp RG, Huizinga TW (2001) Six microsatellite markers on the short arm of chromosome 6 in relation to HLA-DR3 and TNF-308A in systemic lupus erythematosus. Genes Immun 2(7):373-380
51. Suarez A, Lopez P, Mozo L, Gutierrez C (2005) Differential effect of IL10 and TNF{alpha} genotypes on determining susceptibility to discoid and systemic lupus erythematosus. Ann Rheum Dis 64(11):1605-1610
52. Lee YH, Harley JB, Nath SK (2006) Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. Eur J Hum Genet 14(3):364-371
53. Rood MJ, van Krugten MV, Zanelli E, van der Linden MW, Keijsers V, Schreuder GM, Verduyn W, Westendorp RG, de Vries RR, Breedveld FC, Verweij CL, Huizinga TW (2000) TNF-308A and HLA-DR3 alleles contribute independently to susceptibility to systemic lupus erythematosus. Arthritis Rheum 43(1):129-134
54. Sullivan KE, Wooten C, Schmeckpeper BJ, Goldman D, Petri MA (1997) A promoter polymorphism of tumor necrosis factor alpha associated with systemic lupus erythematosus in African-Americans. Arthritis Rheum 40(12):2207-2211
55. Azizah MR, Kuak SH, Ainol SS, Rahim MN, Normaznah Y, Norella K (2004) Association of the tumor necrosis factor alpha gene polymorphism with susceptibility and clinical-immunological findings of systemic lupus erythematosus. Asian Pac J Allergy Immunol 22(2-3):159-163
56. Gambelunghe G, Gerli R, Bocci EB, Del Sindaco P, Ghaderi M, Sanjeevi CB, Bistoni O, Bini V, Falorni A (2005) Contribution of MHC class I chain-related A (MICA) gene polymorphism to genetic susceptibility for systemic lupus erythematosus. Rheumatology (Oxford) 44(3):287-292
57. Sirikong M, Tsuchiya N, Chandanayingyong D, Bejrachandra S, Suthipinittharm P, Luangtrakool K, Srinak D, Thongpradit R, Siriboonrit U, Tokunaga K (2002) Association of HLA-DRB1*1502-DQB1*0501 haplotype with susceptibility to systemic lupus erythematosus in Thais. Tissue Antigens 59(2):113-117
58. Martin-Villa JM, Martinez-Laso J, Moreno-Pelayo MA, Castro-Panete MJ, Martinez-Quiles N, Alvarez M, de Juan MD, Gomez-Reino JJ, Arnaiz-Villena A (1998) 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):214-219
59. Correa PA, Molina JF, Pinto LF, Arcos-Burgos M, Herrera M, Anaya JM (2003) TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus. Ann Rheum Dis 62(4):363-365
60. Agnello V (1978) Association of systemic lupus erythematosus and SLE-like syndromes with hereditary and acquired complement deficiency states. Arthritis Rheum 21(5 Suppl):S146-S152
61. Jonsson G, Truedsson L, Sturfelt G, Oxelius VA, Braconier JH, Sjoholm AG (2005) Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease. Medicine (Baltimore) 84(1):23-34
62. Glass D, Raum D, Gibson D, Stillman JS, Schur PH (1976) Inherited deficiency of the second component of complement. Rheumatic disease associations. J Clin Invest 58(4):853-861
63. Sullivan KE, Petri MA, Schmeckpeper BJ, McLean RH, Winkelstein JA (1994) Prevalence of a mutation causing C2 deficiency in systemic lupus erythematosus. J Rheumatol 21(6):1128-1133
64. Nguyen C, Limaye N, Wakeland EK (2002) Susceptibility genes in the pathogenesis of murine lupus. Arthritis Res 4(Suppl 3):S255-S263
65. Morel L, Blenman KR, Croker BP, Wakeland EK (2001) The major murine systemic lupus erythematosus susceptibility locus, Sle1, is a cluster of functionally related genes. Proc Natl Acad Sci USA 98(4):1787-1792
66. Boackle SA, Holers VM, Chen X, Szakonyi G, Karp DR, Wakeland EK, Morel L (2001) Cr2, a candidate gene in the murine Sle1c lupus susceptibility locus, encodes a dysfunctional protein. Immunity 15(5):775-785
67. Kumar KR, Li L, Yan M, Bhaskarabhatla M, Mobley AB, Nguyen C, Mooney JM, Schatzle JD, Wakeland EK, Mohan C (2006) Regulation of B cell tolerance by the lupus susceptibility gene Ly108. Science 312(5780):1665-1669
68. Wandstrat AE, Nguyen C, Limaye N, Chan AY, Subramanian S, Tian XH, Yim YS, Pertsemlidis A, Garner HR Jr, Morel L, Wakeland EK (2004) Association of extensive polymorphisms in the SLAM/CD2 gene cluster with murine lupus. Immunity 21(6):769-780
69. Graham RR, Ortmann WA, Langefeld CD, Jawaheer D, Selby SA, Rodine PR, Baechler EC, Rohlf KE, Shark KB, Espe KJ, Green LE, Nair RP, Stuart PE, Elder JT, King RA, Moser KL, Gaffney PM, Bugawan TL, Erlich HA, Rich SS, Gregersen PK, Behrens TW (2002) Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet 71(3):543-553
70. So AK, Fielder AH, Warner CA, Isenberg DA, Batchelor JR, Walport MJ (1990) DNA polymorphism of major histocompatibility complex class II and class III genes in systemic lupus erythematosus. Tissue Antigens 35(3):144-147
71. Reveille JD, Arnett FC, Olsen ML, Moulds JM, Papasteriades CA, Moutsopoulos HM (1995) HLA-class II alleles and C4 null genes in Greeks with systemic lupus erythematosus. Tissue Antigens 46(5):417-421
72. Dong RP, Kimura A, Hashimoto H, Akizuki M, Nishimura Y, Sasazuki T (1993) Difference in HLA-linked genetic background between mixed connective tissue disease and systemic lupus erythematosus. Tissue Antigens 41(1):20-25
73. Doherty DG, Ireland R, Demaine AG, Wang F, Veerapan K, Welsh KI, Vergani D (1992) Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus in southern Chinese. Arthritis Rheum 35(6):641-646
74. Awdeh ZL, Raum D, Yunis EJ, Alper CA (1983) Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man. Proc Natl Acad Sci USA 80(1):259-263
75. Arnett FC (1997) The genetics of human lupus. In: Wallace DJ, Hahn BH (eds) Dubois' lupus erythematosus. Williams and Wilkins, Baltimore, MD, pp 77-117
76. Truedsson L, Sturfelt G, Nived O (1993) Prevalence of the type I complement C2 deficiency gene in Swedish systemic lupus erythematosus patients. Lupus 2:325-327
77. Walport MJ (1993) Complement deficiency and disease. Br J Rheumatol 32(4):269-273
78. Johnson CA, Densen P, Hurford RK Jr, Colten HR, Wetsel RA (1992) 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):9347-9353
79. Ittiprasert W, Kantachuvesiri S, Pavasuthipaisit K, Verasertniyom O, Chaomthum L, Totemchokchyakarn K, Kitiyanant Y (2005) Complete deficiencies of complement C4A and C4B including 2-bp insertion in codon 1213 are genetic risk factors of systemic lupus erythematosus in Thai populations. J Autoimmun 25(1):77-84
80. Morgan BP, Walport MJ (1991) Complement deficiency and disease. Immunol Today 12(9):301-306
81. Petry F, Loos M (2005) Common silent mutations in all types of hereditary complement C1q deficiencies. Immunogenetics 57(8):566-571
82. Pickering MC, Botto M, Taylor PR, Lachmann PJ, Walport MJ (2000) Systemic lupus erythematosus, complement deficiency, and apoptosis. Adv Immunol 76:227-324
83. Botto M, Walport MJ (2002) C1q, autoimmunity and apoptosis. Immunobiology 205(4-5):395-406
84. Sontheimer RD, Racila E, Racila DM (2005) C1q: its functions within the innate and adaptive immune responses and its role in lupus autoimmunity. J Invest Dermatol 125(1):14-23
85. Bowness P, Davies KA, Norsworthy PJ, Athanassiou P, Taylor-Wiedeman J, Borysiewicz LK, Meyer PAR, Walport MJ (1994) Hereditary C1q deficiency and systemic lupus erythematosus. Q J Med 87:455-494
86. Walport MJ, Davies KA, Botto M (1998) C1q and systemic lupus erythematosus. Immunobiology 199:265-285
87. Korb LC, Ahearn JM (1997) C1q binds directly and specifically to surface blebs of apoptotic human keratinocytes: complement deficiency and systemic lupus erythematosus revisited. J Immunol 158(10):4525-4528
88. Botto M, Dell'Agnola C, Bygrave AE, Thompson EM, Cook HT, Petry F, Loos M, Pandolfi PP, Walport MJ (1998) Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies. Nat Genet 19(1):56-59
89. Turner MW, Hamvas RM (2000) Mannose-binding lectin: structure, function, genetics and disease associations. Rev Immunogenet 2:305-322
90. Sumiya M, Super M, Tabona P, Arai T, Turner MW, Summerfield JA (1991) Molecular basis of opsonic defect in immunodeficient children. Lancet 337(8757):1569-1570
91. Lipscombe RJ, Sumiya M, Hill AV, Lau YL, Levinsky RJ, Summerfield JA, Turner MW (1992) High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene. Hum Mol Genet 1(9):709-715
92. Madsen HO, Garred P, Kurtzhals JA, Lamm LU, Ryder LP, Thiel S, Svejgaard A (1994) A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein. Immunogenetics 40(1):37-40
93. Madsen HO, Garred P, Thiel S, Kurtzhals JA, Lamm LU, Ryder LP, Svejgaard A (1995) Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J Immunol 155(6):3013-3020
94. Lee YH, Witte T, Momot T, Schmidt RE, Kaufman KM, Harley JB, Sestak AL (2005) The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: two case-control studies and a meta-analysis. Arthritis Rheum 52(12):3966-3974
95. Huang YF, Wang W, Han JY, Wu XW, Zhang ST, Liu CJ, Hu QG, Xiong P, Hamvas RM, Wood N, Gong FL, Bittles AH (2003) Increased frequency of the mannose-binding lectin LX haplotype in Chinese systemic lupus erythematosus patients. Eur J Immunogenet 30:121-124
96. Villarreal J, Crosdale D, Ollier W, Hajeer A, Thomson W, Ordi J, Balada E, Villardell M, Teh LS, Poulton K (2001) Mannose binding lectin and FcRIIa (CD32) polymorphism in Spanish systemic lupus erythematosus patients. Rheumatology (Oxford) 40:1009-1012
97. Tsutsumi A, Sasaki K, Wakamiya N, Ichikawa K, Atsumi T, Ohtani K, Suzuki Y, Koike T, Sumida T (2001) Mannose-binding lectin gene: polymorphisms in Japanese patients with systemic lupus erythematosus, rheumatoid arthritis and Sjögren's syndrome. Genes Immun 2:99-104
98. Garred P, Madsen HO, Halberg P, Petersen J, Kronborg G, Svejgaard A, Andersen V, Jacobsen S (1999) Mannose-binding lectin polymorphisms and susceptibility to infection in systemic lupus erythematosus. Arthritis Rheum 42:2145-2152
99. Ip WK, Chan SY, Lau CS, Lau YL (1998) Association of systemic lupus erythematosus with promoter polymorphisms of the mannose-binding lectin gene. Arthritis Rheum 41:1663-1668
100. Nishimura H, Nose M, Hiai H, Minato N, Honjo T (1999) Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptor. Immunity 11(2):141-151
101. Lindqvist AK, Steinsson K, Johanneson B, Kristjansdottir H, Arnasson A, Grondal G, Jonasson I, Magnusson V, Sturfelt G, Truedsson L, Svenungsson E, Lundberg I, Terwilliger JD, Gyllensten UB, Alarcon-Riquelme ME (2000) A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmunity 14(2):169-178
102. Magnusson V, Lindqvist AK, Castillejo-Lopez C, Kristjansdottir H, Steinsson K, Grondal G, Sturfelt G, Truedsson L, Svenungsson E, Lundberg I, Gunnarsson I, Bolstad AI, Haga HJ, Jonsson R, Klareskog L, Alcocer-Varela J, Alarcon-Segovia D, Terwilliger JD, Gyllensten UB, Alarcon-Riquelme ME (2000) Fine mapping of the SLEB2 locus involved in susceptibility to systemic lupus erythematosus. Genomics 70:307-314
103. Nishimura H, Honjo T (2001) PD-1: an inhibitory immunoreceptor involved in peripheral tolerance. Trends Immunol 22(5):265-268
104. Nishimura H, Okazaki T, Tanaka Y, Nakatani K, Hara M, Matsumori A, Sasayama S, Mizoguchi A, Hiai H, Minato N, Honjo T (2001) Autoimmune dilated cardiomyopathy in PD-1 receptor-deficient mice. Science 291(5502):319-322
105. Prokunina L, Castilejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes A, Tentler D, Kristjansdottr H, Grondal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jonssen A, Truedsson Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcon-Segovia D, Steinsson K, Alarcon-Riquelme ME (2002) A regulatory polymorphism within the PD-1 gene is associated with susceptibility to systemic lupus erythematosus. Nat Genet 32:666-669
106. Prokunina L, Gunnarsson I, Sturfelt G, Truedsson L, Seligman VA, Olson JL, Seldin MF, Criswell LA, Alarcon-Riquelme ME (2004) The systemic lupus erythematosus-associated PDCD1 polymorphism PD1.3A in lupus nephritis. Arthritis Rheum 50(1):327-328
107. Ferreiros-Vidal I, Gomez-Reino JJ, Barros F, Carracedo A, Carreira P, Gonzalez-Escribano F, Liz M, Martin J, Ordi J, Vicario JL, Gonzalez A (2004) Association of PDCD1 with susceptibility to systemic lupus erythematosus: evidence of population-specific effects. Arthritis Rheum 50(8):2590-2597
108. Bottini N, Musumeci L, Alonso A, Rahmouni S, Konstantina N, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T (2004) A functional variant of lymphoid tyrosine phosphatase is associated with type 1 diabetes. Nat Genet 36:337-338
109. Orozco G, Sanchez E, Gonzalez-Gay MA, Lopez-Nevot MA, Torres B, Caliz R, Ortego-Centeno N, Jimenez-Alonzo J, Pascual-Salcedo D, balsa A, de Pablo R, Nunez-Roldan A, Gonzales-Escribano MF, Martin J (2005) Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 52:219-224
110. Begovich AB, Carlton VEH, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SP, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK (2004) A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75:330-337
111. Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JMM, Vella A, Nutland S, Rance HE, Maier L, Barratt BJ, Guja C, Ionescu-Tirgoviste C, Savage DA, Dunger DB, Widmer B, Strachan DP, Ring SM, Walker N, Clayton DG, Twells RCJ, Gough SCL, Todd JA (2004) Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 53:3020-3023
112. Onengut-Gumuscu S, Ewens KG, Spielman RS, Concannon P (2004) A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type 1 diabetes in multiplex families. Genes Immun 5:678-680
113. Ladner MB, Bottini N, Valdes AM, Noble JA (2005) Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes. Hum Immunol 66:60-64
114. Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, Ball SG, James RA, Quinton R, Perros P, Pearce SHS (2004) The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 89(11):5562-5865
115. Wu H, Cantor RM, Cunninghame Graham DS, Lingren CM, Farwell L, De Jager PL, Bottini N, Grossman JM, Wallace DJ, Hahn BH, Julkunen H, Hebert LA, Rovin BH, Birmingham DJ, Rioux JD, Yu CY, Kere J, Vyse TJ, Tsao BP (2005) Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families. Arthritis Rheum 52:2396-2402
116. Bottini N, Vang T, Cucca F, Mustelin T (2006) Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Semin Immunol 18(4):207-213
117. Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, Nika K, Tautz L, Tasken K, Cucca F, Mustelin T, Bottini N (2005) Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 37(12):1317-1319
118. Kimberly RP, Salmon JE, Edberg JC (1995) Receptors for immunoglobulin G. Molecular diversity and implications for disease. Arthritis Rheum 38(3):306-314
119. Stein MP, Edberg JC, Kimberly RP, Mangan EK, Bharadwaj D, Mold C, Du Clos TW (2000) C-reactive protein binding to FcgammaRIIa on human monocytes and neutrophils is allele-specific. J Clin Invest 105(3):369-376
120. Callejas JL, Sabio JM, Haro MD, Camps M, Ramon ED, Garcia-Hernandez FJ, Koeleman B, Martin J, Gonzalez-Escribano MF (2006) Polymorphisms of the FCRL3 gene in a Spanish population of systemic lupus erythematosus patients. Rheumatology (Oxford) 45(8):1044-1048
121. de Veer MJ, Holko M, Frevel M, Walker E, Der S, Paranjape JM, Silverman RH, Williams BR (2001) Functional classification of interferon-stimulated genes identified using microarrays. J Leukoc Biol 69:912-920
122. Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, Shark KB, Grande WJ, Hughes KM, Kapur V, Gregersen PK, Behrens TW (2003) Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci USA 100:2610-2615
123. Crow MK, Wohlgemuth J (2003) Microarray analysis of gene expression in lupus. Arthritis Res Ther 5:279-287
124. Richter MF, Dumenil G, Uze G, Fellous M, Pellegrini S (1998) Specific contribution of TYK2 JH regions to the binding and expression of the interferon alpha/beta receptor component IFNAR1. J Biol Chem 273:24723-24729
125. Ragimbeau J, Dondi E, Alcover A, Eid P, Uze G, Pellegrini S (2003) The tyrosine kinase Thk2 controls IFNAR1 cell surface expression. EMBO J 22:537-547
126. Barnes B, Lubyova B, Pitha PM (2002) On the role of IRF in host defense. J Interferon Cytokine Res 22:59-71
127. Cheung VG, Spielman RS, Ewens KG, Weber TM, Morley M, Burdick JT (2005) Mapping determinants of human gene expression by regional and genome-wide association. Nature 437(7063):1365-1369
128. Kelly JA, Moser KL, Harley JB (2002) The genetics of systemic lupus erythematosus: putting the pieces together. Genes Immun 3(Suppl 1):S71-S85
129. Johanneson B, Lima G, Alarcon-Riquelme M, Collaboration on the genetics of SLE, BIOMED II Collaboration on the Genetics of SLE and Sjogrens Syndrome (2001) Analysis of chromosome 1 for SLE susceptibility loci in a new set of 69 multicase families. Am J Hum Genet 69(Suppl 4):S1970
130. Moser KL, Neas BR, Salmon JE, Yu H, Gray-McGuire C, Asundi N, Bruner GR, Fox J, Kelly J, Henshall S, Bacino D, Dietz M, Hogue R, Koelsch G, Nightingale L, Shaver T, Abdou NI, Albert DA, Carson C, Petri M, Treadwell EL, James JA, Harley JB (1998) Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci USA 95:14869-14874
131. Johansson CM, Zunec R, Garcia MA, Scherbarth HR, Tate GA, Paira S, Navarro SM, Perandones CE, Gamron S, Alvarellos A, Graf CE, Manni J, Berbotto GA, Palatnik SA, Catoggio LJ, Battagliotti CG, Sebastiani GD, Migliaresi S, Galeazzi M, Pons-Estel BA, Alarcon-Riquelme ME; Collaborative Group on the Genetics of SLE; Argentine Collaborative Group (2004) Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus. Hum Genet 115(3):230-238
132. Tsao BP, Cantor RM, Grossman JM, Shen N, Teophilov NT, Wallace DJ, Arnett FC, Hartung K, Goldstein R, Kalunian KC, Hahn BH, Rotter JI (1999) PARP alleles within the linked chromosomal region are associated with systemic lupus erythematosus. J Clin Invest 103(8):1135-1140
133. Graham RR, Langefeld CD, Gaffney PM, Ortmann WA, Selby SA, Baechler EC,
134. Gray-McGuire C, Moser KL, Gaffney PM, Kelly J, Yu H, Olson JM, Jedrey CM, Jacobs KB, Kimberly RP, Neas BR, Rich SS, Behrens TW, Harley JB (2000) Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2. Am J Hum Genet 67:1460-1469
135. Gaffney PM, Kearns GM, Shark KB, Ortmann WA, Selby SA, Malmgren ML, Rohlf KE, Ockenden TC, Messner RP, King RA, Rich SS, Behrens TW (1998) A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci USA 95:14875-14879
136. Kelly JA, Reid J, Kilpatrick J, Harris B, Berry-Brattan CK, Frank S, Hutchings D, Cooney C, Johnson S, Bacino D, Rossacci K, Aberle T, Namjou B, Nath SK, Bruner GR, Scofield RH, James JA, Harley JB (2002) Combined genome scan results for 266 pedigrees multiplex for systemic lupus erythematosus (SLE): significant evidence of genetic linkage at 1q22-23 and 11p13. Am J Hum Genet 71(Suppl 4):S1573
137. Nath SK, Quintero-Del-Rio AI, Kilpatrick J, Feo L, Ballesteros M, Harley JB (2004) Linkage at 12q24 with systemic lupus erythematosus (SLE) is established and confirmed in Hispanic and European American families. Am J Hum Genet 74(1):73-82
138. Gaffney PM, Ortmann WA, Selby SA, Shark KB, Ockenden TC, Rohlf KE, Walgrave NL, Boyum WP, Malmgren ML, Miller ME, Kearns GM, Messner RP, King RA, Rich SS, Behrens TW (2000) 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):547-556
139. Nath SK, Namjou B, Hutchings D, Garriott CP, Pongratz C, Guthridge J, James JA (2004) Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity. Eur J Hum Genet 12(8):668-672
140. Quintero-Del-Rio AI, Kelly JA, Kilpatrick J, James JA, Harley JB (2002) 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:S57-S62
141. Quintero-Del-Rio AI, Kelly JA, Garriott CP, Hutchings DC, Frank SG, Aston CE, Harley JB (2004) SLEN2 (2q34-35) and SLEN1 (10q22.3) replication in systemic lupus erythematosus stratified by nephritis. Am J Hum Genet 75:346-348
142. Namjou B, Kelly JA, Kilpatrick J, Harley JB (2004) Genetic linkages with lupus at 3p14-21 in families with cigarette smoking affected or anti-La precipitins. Arthritis Rheum 50(Suppl 9):S1618
143. Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, James JA, Harley JB (2002) 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):2937-2945
144. Nath SK, Namjou B, Garriott CP, Frank S, Joslin PA, Kilpatrick J, Kelly JA, Harley JB (2004) Linkage analysis of SLE susceptibility: confirmation of SLER1 at 5p15.3. Genes Immun 5(3):209-214
145. Namjou B, Kelly JA, Kilpatrick J, Kaufman KM, Nath SK, Scofield RH, Harley JB (2005) Linkage at 5q14.3-15 in multiplex systemic lupus erythematosus pedigrees stratified by autoimmune thyroid disease. Arthritis Rheum 52(11):3646-3650
146. Kelly JA, Thompson K, Kilpatrick J, Lam T, Nath SK, Gray-McGuire C, Reid J, Namjou B, Aston CE, Bruner GR, Scofield RH, Harley JB (2002) Evidence for a susceptibility gene (SLEH1) on chromosome 11q14 for systemic lupus erythematosus (SLE) families with hemolytic anemia. Proc Natl Acad Sci USA 99(18):11766-11771
147. Nath SK, Kelly JA, Namjou B, Lam T, Bruner GR, Scofield RH, Aston CE, Harley JB (2001) Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus. Am J Hum Genet 69(6):1401-1406
148. Spritz RA, Gowan K, Bennett DC, Fain PR (2004) 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):188-191
149. Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, Reichlin M, James JA, Harley JB (2002) 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 1:S35-S41
150. McCarty DJ, Manzi S, Medsger TA Jr, Ramsey-Goldman R, LaPorte RE, Kwoh CK (1995) Incidence of systemic lupus erythematosus. Race and gender differences. Arthritis Rheum 38(9):1260-1270
151. Kaslow RA, Masi AT (1978) Age, sex and race effects on mortality from systemic lupus erythematosus in the United States. Arthritis Rheum 21(4):473-479
152. Fessel WJ (1974) Systemic lupus erythematosus in the community. Incidence, prevalence, outcome, and first symptoms; the high prevalence in black women. Arch Intern Med 134:1027-1035
153. Yang Y, Chung EK, Zhou B, Lhotta K, Hebert LA, Birmingham DJ, Rovin BH, Yu CY (2004) The intricate role of complement component C4 in human systemic lupus erythematosus. Curr Dir Autoimmun 7:98-132
154. Wilson WA, Perez MC (1988) Complete C4B deficiency in black Americans with systemic lupus erythematosus. J Rheumatol 15(12):1855-1858
155. Ahmed S, Ihara K, Kanemitsu S, Nakashima H, Otsuka T, Tsuzaka K, Takeuchi T, Hara T (2001) Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population. Rheumatology (Oxford) 40:662-667
156. Pullmann R Jr, Lukac J, Skerenova M, Rovensky J, Hybenova J, Melus V, Celec S, Pullmann R, Hyrdel R (1999) Cytotoxic T lymphocyte antigen 4 (CTLA-4) dimorphism in patients with systemic lupus erythematosus. Clin Exp Rheumatol 17:725-729
157. Lee YH, Kim YR, Ji JD, Sohn J, Song GG (2001) Polymorphisms of the CTLA-4 exon 1 and promoter gene in systemic lupus erythematosus. Lupus 10:601-605
158. Mehrian R, Quismorio FP Jr, Strassmann G, Stimmler MM, Horwitz DA, Kitridou RC, Gauderman WJ, Morrison J, Brautbar C, Jacob CO (1998) Synergistic effect between IL-10 and bcl-2 genotypes in determining susceptibility to systemic lupus erythematosus. Arthritis Rheum 41:596-602
159. D'Alfonso S, Rampi M, Bocchio D, Colombo G, Scorza-Smeraldi R, Momigliano-Richardi P (2000) Systemic lupus erythematosus candidate genes in the Italian population: evidence for a significant association with interleukin-10. Arthritis Rheum 43:120-128
160. Gibson AW, Edberg JC, Wu J, Westendorp RG, Huizinga TW, Kimberly RP (2001) Novel single nucleotide polymorphisms in the distal IL-10 promoter affect IL-10 production and enhance the risk of systemic lupus erythematosus. J Immunol 166:3915-3922
161. Eskdale J, Wordsworth P, Bowman S, Field M, Gallagher G (1997) Association between polymorphisms at the human IL-10 locus and systemic lupus erythematosus. Tissue Antigens 49:635-639
162. Ou TT, Tsai WC, Chen CJ, Chang JG, Yen JH, Wang WS, Lin CH, Tsai JJ, Liu HW (1998) Genetic analysis of interleukin-10 promoter region in patients with systemic lupus erythematosus in Taiwan. Kaohsiung J Med Sci 14:599-606
163. Nath SK, Harley JB, Lee YH (2005) Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis. Hum Genet 118(2):225-234
164. Garred P, Voss A, Madsen HO, Junker P (2001) Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients. Genes Immun 2:442-450
165. Takahashi R, Tsutsumi A, Ohtani K, Muraki Y, Goto D, Matsumoto I, Wakamiya N, Sumida T (2005) Association of mannose binding lectin (MBL) gene polymorphism and serum MBL concentration with characteristics and progression of systemic lupus erythematosus. Ann Rheum Dis 64(2):311-314
166. Sullivan KE, Wooten C, Goldman D, Petri M (1996) Mannose-binding protein genetic polymorphisms in black patients with systemic lupus erythematosus. Arthritis Rheum 39:2046-2051
167. D'Alfonso S, Barizzone N, Giordano M, Chiocchetti A, Magnani C, Castelli L, Indelicato M, Giacopelli F, Marchini M, Scorza R, Danieli MG, Cappelli M, Migliaresi S, Bigliardo B, Sabbadini MG, Baldissera E, Galeazzi M, Sebastiani GD, Minisola G, Ravazzolo R, Dianzani U, Momigliano-Richiardi P (2005) Two single-nucleotide polymorphisms in the 5 and 3 ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus. Arthritis Rheum 52(2):539-547
168. Forton AC, Petri MA, Goldman D, Sullivan KE (2002) An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus. Hum Mutat 19(4):459
169. Nielsen C, Laustrup H, Voss A, Junker P, Husby S, Lillevang ST (2004) A putative regulatory polymorphism in PD-1 is associated with nephropathy in a population-based cohort of systemic lupus erythematosus patients. Lupus 13(7):510-516
170. Johansson M, Arlestig L, Moller B, Rantapaa-Dahlqvist S (2005) Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus. Arthritis Rheum 52(6):1665-1669