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Erschienen in: Rheumatology International 9/2009

01.06.2009 | Original Article

Higher genetic susceptibility to inflammation in mild disease activity of systemic lupus erythematosus

verfasst von: Li-Jen Tsai, Sheng-Hsiung Hsiao, Jaw-Ji Tsai, Ching-Yuang Lin, Lih-Min Tsai, Joung-Liang Lan

Erschienen in: Rheumatology International | Ausgabe 9/2009

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Abstract

In order to test the hypothesis that stratification of Mexican Modification of the Systemic Lupus Erythematosus Disease Activity Index (MEX-SLEDAI) simplifies the genetic study of SLE, we evaluated the genetic susceptibility to inflammation and defects in clearance of immune complexes among SLE patients in Taiwan. SLE phenotypes were stratified according to the MEX-SLEDAI scores into two subgroups (≤10 and >10), and then according to renal disorder and neurological disorder, aiming to minimize any loss of power associated with disease heterogeneity. Upon stratification, IL1-β polymorphism and LTA were significantly associated with SLE within the MEX-SLEDAI ≤10 subgroup. When SLE patients were classified into two subgroups with or without renal disorder to stratify the genetic study, we could find that the stratification with renal disorder could partially confirm the hypothesis that stratification of MEX-SLEDAI score simplifies the genetic study of complex diseases such as SLE. So we concluded that in the mild disease state of SLE, stratification of disease phenotypes, especially IL1-β and LTA, according to MEX-SLEDAI scores could reveal new associations between candidate genes and disease activity index of SLE.
Literatur
5.
Zurück zum Zitat Grennan DM, Parfitt A, Manolios N et al (1997) Family and twin studies in systemic lupus erythematosus. Dis Markers 13(2):93–98PubMed Grennan DM, Parfitt A, Manolios N et al (1997) Family and twin studies in systemic lupus erythematosus. Dis Markers 13(2):93–98PubMed
10.
Zurück zum Zitat Edberg JC, Langefeld CD, Wu J et al (2002) Genetic linkage and association of Fcgamma receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus. Arthritis Rheum 46(8):2132–2140. doi:10.1002/art.10438 PubMedCrossRef Edberg JC, Langefeld CD, Wu J et al (2002) Genetic linkage and association of Fcgamma receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus. Arthritis Rheum 46(8):2132–2140. doi:10.​1002/​art.​10438 PubMedCrossRef
11.
Zurück zum Zitat 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(6):1563–1571. doi:10.1002/art.10306 PubMedCrossRef 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(6):1563–1571. doi:10.​1002/​art.​10306 PubMedCrossRef
12.
Zurück zum Zitat Kyogoku C, Dijstelbloem HM, Tsuchiya N et al (2002) Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility. Arthritis Rheum 46(5):1242–1254. doi:10.1002/art.10257 PubMedCrossRef Kyogoku C, Dijstelbloem HM, Tsuchiya N et al (2002) Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility. Arthritis Rheum 46(5):1242–1254. doi:10.​1002/​art.​10257 PubMedCrossRef
14.
Zurück zum Zitat Bennett F, Luxenberg D, Ling V et al (2003) Program death-1 engagement upon TCR activation has distinct effects on costimulation and cytokine-driven proliferation: attenuation of ICOS, IL-4, and IL-21, but not CD28, IL-7, and IL-15 responses. J Immunol 170(2):711–718PubMed Bennett F, Luxenberg D, Ling V et al (2003) Program death-1 engagement upon TCR activation has distinct effects on costimulation and cytokine-driven proliferation: attenuation of ICOS, IL-4, and IL-21, but not CD28, IL-7, and IL-15 responses. J Immunol 170(2):711–718PubMed
16.
17.
Zurück zum Zitat Tsai LJ, Hsiao SH, Tsai LM et al (2008) The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE. Tissue Antigens 71(2):114–126 Epub 2007 Dec 6PubMedCrossRef Tsai LJ, Hsiao SH, Tsai LM et al (2008) The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE. Tissue Antigens 71(2):114–126 Epub 2007 Dec 6PubMedCrossRef
18.
Zurück zum Zitat Symmons DP, Coppock JS, Bacon PA et al (1988) Development and assessment of a computerized index of clinical disease activity in systemic lupus erythematosus. Members of the British Isles Lupus Assessment Group (BILAG). Q J Med 69(259):927–937PubMed Symmons DP, Coppock JS, Bacon PA et al (1988) Development and assessment of a computerized index of clinical disease activity in systemic lupus erythematosus. Members of the British Isles Lupus Assessment Group (BILAG). Q J Med 69(259):927–937PubMed
19.
Zurück zum Zitat Vitali C, Bencivelli W, Isenberg DA et al (1992) Disease activity in systemic lupus erythematosus: report of the Consensus Study Group of the European Workshop for Rheumatology Research. II. Identification of the variables indicative of disease activity and their use in the development of an activity score. The European Consensus Study Group for Disease Activity in SLE. Clin Exp Rheumatol 10(5):541–547PubMed Vitali C, Bencivelli W, Isenberg DA et al (1992) Disease activity in systemic lupus erythematosus: report of the Consensus Study Group of the European Workshop for Rheumatology Research. II. Identification of the variables indicative of disease activity and their use in the development of an activity score. The European Consensus Study Group for Disease Activity in SLE. Clin Exp Rheumatol 10(5):541–547PubMed
20.
Zurück zum Zitat Urowitz MB, Gladman DD, Tozman EC et al (1984) The lupus activity criteria count (LACC). J Rheumatol 11(6):783–787PubMed Urowitz MB, Gladman DD, Tozman EC et al (1984) The lupus activity criteria count (LACC). J Rheumatol 11(6):783–787PubMed
21.
Zurück zum Zitat Bombardier C, Gladman DD, Urowitz MB et al (1992) Derivation of the SLEDAI. A disease activity index for lupus patients. The Committee on Prognosis Studies in SLE. Arthritis Rheum 35(6):630–640. doi:10.1002/art.1780350606 PubMedCrossRef Bombardier C, Gladman DD, Urowitz MB et al (1992) Derivation of the SLEDAI. A disease activity index for lupus patients. The Committee on Prognosis Studies in SLE. Arthritis Rheum 35(6):630–640. doi:10.​1002/​art.​1780350606 PubMedCrossRef
22.
Zurück zum Zitat Guzman J, Cardiel MH, Arce-Salinas A et al (1992) Measurement of disease activity in systemic lupus erythematosus. Prospective validation of 3 clinical indices. J Rheumatol 19(10):1551–1558PubMed Guzman J, Cardiel MH, Arce-Salinas A et al (1992) Measurement of disease activity in systemic lupus erythematosus. Prospective validation of 3 clinical indices. J Rheumatol 19(10):1551–1558PubMed
23.
Zurück zum Zitat Liang MH, Socher SA, Larson MG et al (1989) Reliability and validity of six systems for the clinical assessment of disease activity in systemic lupus erythematosus. Arthritis Rheum 32(9):1107–1118. doi:10.1002/anr.1780320909 PubMedCrossRef Liang MH, Socher SA, Larson MG et al (1989) Reliability and validity of six systems for the clinical assessment of disease activity in systemic lupus erythematosus. Arthritis Rheum 32(9):1107–1118. doi:10.​1002/​anr.​1780320909 PubMedCrossRef
24.
Zurück zum Zitat Davas EM, Tsirogianni A, Kappou I et al (1999) Serum IL-6, TNFalpha, p55 srTNFalpha, p75srTNFalpha, srIL-2alpha levels and disease activity in systemic lupus erythematosus. Clin Rheumatol 18(1):17–22. doi:10.1007/s100670050045 PubMedCrossRef Davas EM, Tsirogianni A, Kappou I et al (1999) Serum IL-6, TNFalpha, p55 srTNFalpha, p75srTNFalpha, srIL-2alpha levels and disease activity in systemic lupus erythematosus. Clin Rheumatol 18(1):17–22. doi:10.​1007/​s100670050045 PubMedCrossRef
25.
Zurück zum Zitat Chen CY, Tseng HM, Chen LC et al (2003) Use of a new fluorescence immunoassay to detect anti-dsDNA antibodies is more correlated with disease activity and complement than the ELISA method in SLE patients. Lupus 12(4):266–273. doi:10.1191/0961203303lu331oa PubMedCrossRef Chen CY, Tseng HM, Chen LC et al (2003) Use of a new fluorescence immunoassay to detect anti-dsDNA antibodies is more correlated with disease activity and complement than the ELISA method in SLE patients. Lupus 12(4):266–273. doi:10.​1191/​0961203303lu331o​a PubMedCrossRef
27.
Zurück zum Zitat Wais T, Fierz W, Stoll T et al (2003) Subclinical disease activity in systemic lupus erythematosus: immunoinflammatory markers do not normalize in clinical remission. J Rheumatol 30(10):2133–2139PubMed Wais T, Fierz W, Stoll T et al (2003) Subclinical disease activity in systemic lupus erythematosus: immunoinflammatory markers do not normalize in clinical remission. J Rheumatol 30(10):2133–2139PubMed
28.
Zurück zum Zitat Steinsson K, Jonsdottir S, Arason GJ et al (1998) A study of the association of HLA DR, DQ, and complement C4 alleles with systemic lupus erythematosus in Iceland. Ann Rheum Dis 57(8):503–505PubMedCrossRef Steinsson K, Jonsdottir S, Arason GJ et al (1998) A study of the association of HLA DR, DQ, and complement C4 alleles with systemic lupus erythematosus in Iceland. Ann Rheum Dis 57(8):503–505PubMedCrossRef
29.
Zurück zum Zitat Johansson M, Arlestig L, Moller B et al (2005) Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus. Arthritis Rheum 52(6):1665–1669. doi:10.1002/art.21058 PubMedCrossRef Johansson M, Arlestig L, Moller B et al (2005) Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus. Arthritis Rheum 52(6):1665–1669. doi:10.​1002/​art.​21058 PubMedCrossRef
30.
Zurück zum Zitat Lane SK, Gravel JW Jr (2002) Clinical utility of common serum rheumatologic tests. Am Fam Physician 65(6):1073–1080PubMed Lane SK, Gravel JW Jr (2002) Clinical utility of common serum rheumatologic tests. Am Fam Physician 65(6):1073–1080PubMed
31.
Zurück zum Zitat Botstein D, Risch N (2003) Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat Genet 33(Suppl):228–237. doi:10.1038/ng1090 PubMedCrossRef Botstein D, Risch N (2003) Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat Genet 33(Suppl):228–237. doi:10.​1038/​ng1090 PubMedCrossRef
32.
36.
37.
Zurück zum Zitat Maeshima E, Liang XM, Otani H et al (2002) Effect of environmental changes on oxidative deoxyribonucleic acid (DNA) damage in systemic lupus erythematosus. Arch Environ Health 57(5):425–428PubMedCrossRef Maeshima E, Liang XM, Otani H et al (2002) Effect of environmental changes on oxidative deoxyribonucleic acid (DNA) damage in systemic lupus erythematosus. Arch Environ Health 57(5):425–428PubMedCrossRef
39.
Zurück zum Zitat Parks CG, Cooper GS, Dooley MA et al (2004) 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):91–94. doi:10.1136/ard.2003.007336 PubMedCrossRef Parks CG, Cooper GS, Dooley MA et al (2004) 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):91–94. doi:10.​1136/​ard.​2003.​007336 PubMedCrossRef
42.
44.
Zurück zum Zitat Tobon GJ, Correa PA, Gomez LM et al (2005) Lack of association between TNF-308 polymorphism and the clinical and immunological characteristics of systemic lupus erythematosus and primary Sjogren’s syndrome. Clin Exp Rheumatol 23(3):339–344PubMed Tobon GJ, Correa PA, Gomez LM et al (2005) Lack of association between TNF-308 polymorphism and the clinical and immunological characteristics of systemic lupus erythematosus and primary Sjogren’s syndrome. Clin Exp Rheumatol 23(3):339–344PubMed
46.
Zurück zum Zitat Messer G, Spengler U, Jung MC et al (1991) Polymorphic structure of the tumor necrosis factor (TNF) locus: an NcoI polymorphism in the first intron of the human TNF-beta gene correlates with a variant amino acid in position 26 and a reduced level of TNF-beta production. J Exp Med 173(1):209–219. doi:10.1084/jem.173.1.209 PubMedCrossRef Messer G, Spengler U, Jung MC et al (1991) Polymorphic structure of the tumor necrosis factor (TNF) locus: an NcoI polymorphism in the first intron of the human TNF-beta gene correlates with a variant amino acid in position 26 and a reduced level of TNF-beta production. J Exp Med 173(1):209–219. doi:10.​1084/​jem.​173.​1.​209 PubMedCrossRef
47.
Zurück zum Zitat Bettinotti MP, Hartung K, Deicher H et al (1993) Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus: TNFB-MHC haplotypes. Immunogenetics 37(6):449–454. doi:10.1007/BF00222469 PubMedCrossRef Bettinotti MP, Hartung K, Deicher H et al (1993) Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus: TNFB-MHC haplotypes. Immunogenetics 37(6):449–454. doi:10.​1007/​BF00222469 PubMedCrossRef
48.
Zurück zum Zitat Prokunina L, Castillejo-Lopez C, Oberg F et al (2002) A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 32(4):666–669. doi:10.1038/ng1020 PubMedCrossRef Prokunina L, Castillejo-Lopez C, Oberg F et al (2002) A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 32(4):666–669. doi:10.​1038/​ng1020 PubMedCrossRef
49.
Metadaten
Titel
Higher genetic susceptibility to inflammation in mild disease activity of systemic lupus erythematosus
verfasst von
Li-Jen Tsai
Sheng-Hsiung Hsiao
Jaw-Ji Tsai
Ching-Yuang Lin
Lih-Min Tsai
Joung-Liang Lan
Publikationsdatum
01.06.2009
Verlag
Springer-Verlag
Erschienen in
Rheumatology International / Ausgabe 9/2009
Print ISSN: 0172-8172
Elektronische ISSN: 1437-160X
DOI
https://doi.org/10.1007/s00296-009-0900-0

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