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Published in: Journal of Clinical Immunology 6/2006

01-11-2006

Programmed Death-1 Gene Polymorphisms in Patients With Systemic Lupus Erythematosus in Taiwan

Authors: SHU-CHEN WANG, YI-JING CHEN, TSAN-TENG OU, CHENG-CHIN WU, WEN-CHAN TSAI, HONG-WEN LIU, JENG-HSIEN YEN

Published in: Journal of Clinical Immunology | Issue 6/2006

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Abstract

To investigate the role of programmed cell death-1 (PD-1) gene polymorphisms in the development of systemic lupus erythematosus (SLE) in Taiwan, 109 patients with SLE and 100 healthy controls were enrolled in this study. The PD-1 gene polymorphisms were determined by the method of polymerase chain reaction/restriction fragment length polymorphism. This study showed that the genotype distributions of PD-1 7209 C/T polymorphisms were significantly different between the patients with SLE and controls (P=0.002, Pc=0.018). The frequencies of the PD-1 7209 C/C genotype and PD-1 7209 C allele were significantly higher in the patients with SLE than those of the controls (P=0.001, OR=2.6, 95% CI=1.5–4.6, and P=0.002, OR=2.1, 95% CI=1.3–3.4, Pc=0.018, respectively). Moreover, the association of PD-1 7209 C with susceptibility to SLE was independent of the PD-1 ligand. This study also showed that the PD-1-536 A 7146 G 7209 C 7499 G haplotype was associated with the development of SLE in Taiwan.
Literature
1.
go back to reference Tsao BP: Update on human systemic lupus erythematosus genetics. Curr Opin Rheumatol 16(5):513–521, 2004PubMedCrossRef Tsao BP: Update on human systemic lupus erythematosus genetics. Curr Opin Rheumatol 16(5):513–521, 2004PubMedCrossRef
2.
go back to reference Prokunina L, Alarcon-Riquelme M: The genetic basis of systemic lupus erythematosus—Knowledge of today and thoughts for tomorrow. Hum Mol Genet 13 (Special Issue 1):R143–148, 2004PubMedCrossRef Prokunina L, Alarcon-Riquelme M: The genetic basis of systemic lupus erythematosus—Knowledge of today and thoughts for tomorrow. Hum Mol Genet 13 (Special Issue 1):R143–148, 2004PubMedCrossRef
3.
go back to reference Moser KL, Neas BR, Salmon JE et al.: Genome scan of human systemic lupus erythematosus: Evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci USA 95(25):14869–14874, 1998PubMedCrossRef Moser KL, Neas BR, Salmon JE et al.: Genome scan of human systemic lupus erythematosus: Evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci USA 95(25):14869–14874, 1998PubMedCrossRef
4.
go back to reference Croker JA, Kimberly RP: Genetics of susceptibility and severity in systemic lupus erythematosus. Curr Opin Rheumatol 17(5):529–537, 2005PubMedCrossRef Croker JA, Kimberly RP: Genetics of susceptibility and severity in systemic lupus erythematosus. Curr Opin Rheumatol 17(5):529–537, 2005PubMedCrossRef
5.
go back to reference Ishida Y, Agata Y, Shibahara K, Honjo T: Induced expression of PD-1, a novel member of the immunoglobulin gene superfamily, upon programmed cell death. EMBO J 11(11):3887–3895, 1992PubMed Ishida Y, Agata Y, Shibahara K, Honjo T: Induced expression of PD-1, a novel member of the immunoglobulin gene superfamily, upon programmed cell death. EMBO J 11(11):3887–3895, 1992PubMed
6.
go back to reference Okazaki T, Maeda A, Nishimura H, Kurosaki T, Honjo T: PD-1 immunoreceptor inhibits B cell receptor-mediated signaling by recruiting src homology 2-domain-containing tyrosine phosphatase 2 to phosphotyrosine. Proc Natl Acad Sci USA 98(24):13866–13871, 2001PubMedCrossRef Okazaki T, Maeda A, Nishimura H, Kurosaki T, Honjo T: PD-1 immunoreceptor inhibits B cell receptor-mediated signaling by recruiting src homology 2-domain-containing tyrosine phosphatase 2 to phosphotyrosine. Proc Natl Acad Sci USA 98(24):13866–13871, 2001PubMedCrossRef
7.
go back to reference Freeman GJ, Long AJ, Iwai Y et al.: Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activation. J Exp Med 192(7):1027–1034, 2000PubMedCrossRef Freeman GJ, Long AJ, Iwai Y et al.: Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activation. J Exp Med 192(7):1027–1034, 2000PubMedCrossRef
8.
go back to reference Latchman Y, Wood CR, Chernova T et al.: PD-L2 is a second ligand for PD-1 and inhibits T cell activation. Nat Immunol 2(3):261–268, 2001PubMedCrossRef Latchman Y, Wood CR, Chernova T et al.: PD-L2 is a second ligand for PD-1 and inhibits T cell activation. Nat Immunol 2(3):261–268, 2001PubMedCrossRef
9.
go back to reference Nishimura H, Nose M, Hiai H, Minato N, Honjo T: Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptor. Immunity 11(2):141–151, 1999PubMedCrossRef Nishimura H, Nose M, Hiai H, Minato N, Honjo T: Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptor. Immunity 11(2):141–151, 1999PubMedCrossRef
10.
go back to reference Wang J, Yoshida T, Nakaki F, Hiai H, Okazaki T, Honjo T: Establishment of NOD-Pdcd1−/− mice as an efficient animal model of type I diabetes. Proc Natl Acad Sci USA 102(33):11823–11828, 2005PubMedCrossRef Wang J, Yoshida T, Nakaki F, Hiai H, Okazaki T, Honjo T: Establishment of NOD-Pdcd1−/− mice as an efficient animal model of type I diabetes. Proc Natl Acad Sci USA 102(33):11823–11828, 2005PubMedCrossRef
11.
go back to reference Ansari MJ, Salama AD, Chitnis T et al.: The programmed death-1 (PD-1) pathway regulates autoimmune diabetes in nonobese diabetic (NOD) mice. J Exp Med 198(1):63–69, 2003PubMedCrossRef Ansari MJ, Salama AD, Chitnis T et al.: The programmed death-1 (PD-1) pathway regulates autoimmune diabetes in nonobese diabetic (NOD) mice. J Exp Med 198(1):63–69, 2003PubMedCrossRef
12.
go back to reference Nishimura H, Okazaki T, Tanaka Y et al.: Autoimmune dilated cardiomyopathy in PD-1 receptor-deficient mice. Science 291(5502):319–322, 2001PubMedCrossRef Nishimura H, Okazaki T, Tanaka Y et al.: Autoimmune dilated cardiomyopathy in PD-1 receptor-deficient mice. Science 291(5502):319–322, 2001PubMedCrossRef
13.
go back to reference Okazaki T, Tanaka Y, Nishio R et al.: Autoantibodies against cardiac troponin I are responsible for dilated cardiomyopathy in PD-1-deficient mice. Nat Med 9(12):1477–1483, 2003PubMedCrossRef Okazaki T, Tanaka Y, Nishio R et al.: Autoantibodies against cardiac troponin I are responsible for dilated cardiomyopathy in PD-1-deficient mice. Nat Med 9(12):1477–1483, 2003PubMedCrossRef
14.
go back to reference Lindqvist AK, Steinsson K, Johanneson B et al.: A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmun 14(2):169–178, 2000PubMedCrossRef Lindqvist AK, Steinsson K, Johanneson B et al.: A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmun 14(2):169–178, 2000PubMedCrossRef
15.
go back to reference Magnusson V, Lindqvist AK, Castillejo-Lopez C et al.: Fine mapping of the SLEB2 locus involved in susceptibility to systemic lupus erythematosus. Genomics 70(3):307–314, 2000PubMedCrossRef Magnusson V, Lindqvist AK, Castillejo-Lopez C et al.: Fine mapping of the SLEB2 locus involved in susceptibility to systemic lupus erythematosus. Genomics 70(3):307–314, 2000PubMedCrossRef
16.
go back to reference Prokunina L, Castillejo-Lopez C, Oberg F et al.: A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 32(4):666–669, 2002PubMedCrossRef Prokunina L, Castillejo-Lopez C, Oberg F et al.: A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 32(4):666–669, 2002PubMedCrossRef
17.
go back to reference Ferreiros-Vidal I, Gomez-Reino JJ, Barros F et al.: Association of PDCD1 with susceptibility to systemic lupus erythematosus: Evidence of population-specific effects. Arthritis Rheum 50(8):2590–2597, 2004PubMedCrossRef Ferreiros-Vidal I, Gomez-Reino JJ, Barros F et al.: Association of PDCD1 with susceptibility to systemic lupus erythematosus: Evidence of population-specific effects. Arthritis Rheum 50(8):2590–2597, 2004PubMedCrossRef
18.
go back to reference Johansson M, Arlestig L, Moller B, Rantapaa-Dahlqvist S: Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus. Arthritis Rheum 52(6):1665–1669, 2005PubMedCrossRef Johansson M, Arlestig L, Moller B, Rantapaa-Dahlqvist S: Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus. Arthritis Rheum 52(6):1665–1669, 2005PubMedCrossRef
19.
go back to reference Prokunina L, Padyukov L, Bennet A et al.: Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope. Arthritis Rheum 50(6):1770–1773, 2004PubMedCrossRef Prokunina L, Padyukov L, Bennet A et al.: Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope. Arthritis Rheum 50(6):1770–1773, 2004PubMedCrossRef
20.
go back to reference Kong EK, Prokunina-Olsson L, Wong WH et al.: A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 52(4):1058–1062, 2005PubMedCrossRef Kong EK, Prokunina-Olsson L, Wong WH et al.: A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 52(4):1058–1062, 2005PubMedCrossRef
21.
go back to reference Lin SC, Yen JH, Tsai JJ et al.: Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum 50(3):770–775, 2004PubMedCrossRef Lin SC, Yen JH, Tsai JJ et al.: Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum 50(3):770–775, 2004PubMedCrossRef
22.
go back to reference Nielsen C, Hansen D, Husby S, Jacobsen BB, Lillevang ST: Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 62(6):492–497, 2003PubMedCrossRef Nielsen C, Hansen D, Husby S, Jacobsen BB, Lillevang ST: Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 62(6):492–497, 2003PubMedCrossRef
23.
go back to reference Kroner A, Mehling M, Hemmer B et al.: A PD-1 polymorphism is associated with disease progression in multiple sclerosis. Ann Neurol 58(1):50–57, 2005PubMedCrossRef Kroner A, Mehling M, Hemmer B et al.: A PD-1 polymorphism is associated with disease progression in multiple sclerosis. Ann Neurol 58(1):50–57, 2005PubMedCrossRef
24.
go back to reference Prokunina L, Gunnarsson I, Sturfelt G et al.: The systemic lupus erythematosus-associated PDCD1 polymorphism PD1.3A in lupus nephritis. Arthritis Rheum 50(1):327–328, 2004PubMedCrossRef Prokunina L, Gunnarsson I, Sturfelt G et al.: The systemic lupus erythematosus-associated PDCD1 polymorphism PD1.3A in lupus nephritis. Arthritis Rheum 50(1):327–328, 2004PubMedCrossRef
25.
go back to reference Chou WC, Liao KW, Lo YC, Jiang SY, Yeh MY, Roffler SR: Expression of chimeric monomer and dimer proteins on the plasma membrane of mammalian cells. Biotechnol Bioeng 65(2):160–169, 1999PubMedCrossRef Chou WC, Liao KW, Lo YC, Jiang SY, Yeh MY, Roffler SR: Expression of chimeric monomer and dimer proteins on the plasma membrane of mammalian cells. Biotechnol Bioeng 65(2):160–169, 1999PubMedCrossRef
26.
go back to reference Choi S, Lee E, Kwon S et al.: Transmembrane domain-induced oligomerization is crucial for the functions of syndecan-2 and syndecan-4. J Biol Chem 280(52):42573–42579, 2005PubMedCrossRef Choi S, Lee E, Kwon S et al.: Transmembrane domain-induced oligomerization is crucial for the functions of syndecan-2 and syndecan-4. J Biol Chem 280(52):42573–42579, 2005PubMedCrossRef
27.
go back to reference Bourguignon LY, Singer SJ: Transmembrane interactions and the mechanism of capping of surface receptors by their specific ligands. Proc Natl Acad Sci USA 74(11):5031–5035, 1977PubMedCrossRef Bourguignon LY, Singer SJ: Transmembrane interactions and the mechanism of capping of surface receptors by their specific ligands. Proc Natl Acad Sci USA 74(11):5031–5035, 1977PubMedCrossRef
Metadata
Title
Programmed Death-1 Gene Polymorphisms in Patients With Systemic Lupus Erythematosus in Taiwan
Authors
SHU-CHEN WANG
YI-JING CHEN
TSAN-TENG OU
CHENG-CHIN WU
WEN-CHAN TSAI
HONG-WEN LIU
JENG-HSIEN YEN
Publication date
01-11-2006
Published in
Journal of Clinical Immunology / Issue 6/2006
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-006-9048-9

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