Skip to main content
Erschienen in: Rheumatology International 10/2012

01.10.2012 | Original Article

Polymorphisms in PDCD1 gene are not associated with aplastic anemia in Chinese Han population

verfasst von: Z. J. Ming, H. Hui, M. Miao, Y. H. Qiu, X. G. Zhang

Erschienen in: Rheumatology International | Ausgabe 10/2012

Einloggen, um Zugang zu erhalten

Abstract

Programmed cell death 1 (PD-1) has recently been reported to have a genetic association in several autoimmune diseases. The object of this study was to investigate the association of PD-1 polymorphisms with aplastic anemia (AA) in the Chinese Han population. In a case–control association study, three single-nucleotide polymorphisms (SNP), PD-1.3 G/A, PD-1.5 C/T, and PD-1.9 T/C, were genotyped in 166 AA patients and 264 healthy controls using polymerase chain reaction-restriction fragment length polymorphism assay. All genotype distributions in the patients and the controls were in Hardy–Weinberg equilibrium. The associations of genotypes and alleles with AA were analyzed. No differences in genotype and allele frequencies were elucidated for SNPs in intron 4 and exon 5. In conclusion, we show no association of selected SNPs in PDCD1 gene with AA in the Chinese Han population.
Literatur
1.
Zurück zum Zitat Nakao S (1997) Immune mechanism of aplastic anemia. Int J Hematol 66:127–134 Nakao S (1997) Immune mechanism of aplastic anemia. Int J Hematol 66:127–134
2.
Zurück zum Zitat Shlapatska LM, Mikhalap SV, Berdova AG, Zelensky OM, Yun TJ, Nichols KE, Clark EA, Sidorenko SP (2001) CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A. J Immunol 166:5480–5487PubMed Shlapatska LM, Mikhalap SV, Berdova AG, Zelensky OM, Yun TJ, Nichols KE, Clark EA, Sidorenko SP (2001) CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A. J Immunol 166:5480–5487PubMed
3.
Zurück zum Zitat Agata Y, Kawasaki A, Nishimura H, Ishida Y, Tsubata T, Yagita H, Honjo T (1996) Expression of the PD-1 antigen on the surface of stimulated mouse T and B lymphocyte. Int Immunol 8:765–772 Agata Y, Kawasaki A, Nishimura H, Ishida Y, Tsubata T, Yagita H, Honjo T (1996) Expression of the PD-1 antigen on the surface of stimulated mouse T and B lymphocyte. Int Immunol 8:765–772
4.
Zurück zum Zitat Okazaki T, Tanaka Y, Nishio R, Mitsuiye T, Mizoguchi A, Wang J, Ishida M, Hiai H, Matsumori A, Minato N, Honjo T (2003) Autoantibodies against cardiactroponin I are responsible for dilated cardiomyopathy in PD-1 deficient mice. Nat Med 9:1477–1483PubMedCrossRef Okazaki T, Tanaka Y, Nishio R, Mitsuiye T, Mizoguchi A, Wang J, Ishida M, Hiai H, Matsumori A, Minato N, Honjo T (2003) Autoantibodies against cardiactroponin I are responsible for dilated cardiomyopathy in PD-1 deficient mice. Nat Med 9:1477–1483PubMedCrossRef
5.
Zurück zum Zitat Lazar-Molnar E, Chen B, Kari A (2010) Programmed death-1 (PD-1)-deficient mice are extraordinarily sensitive to tuberculosis. PNAS 107:13402–13407PubMedCrossRef Lazar-Molnar E, Chen B, Kari A (2010) Programmed death-1 (PD-1)-deficient mice are extraordinarily sensitive to tuberculosis. PNAS 107:13402–13407PubMedCrossRef
6.
Zurück zum Zitat Wang J, Yoshida T, Nakaki F, Hiai H, Okazaki T, Honjo T (2005) Establishment of NOD-pdcd11−/− mice as an efficient animal model of type 1 diabetes. PNAS 102:11823–11828PubMedCrossRef Wang J, Yoshida T, Nakaki F, Hiai H, Okazaki T, Honjo T (2005) Establishment of NOD-pdcd11−/− mice as an efficient animal model of type 1 diabetes. PNAS 102:11823–11828PubMedCrossRef
7.
Zurück zum Zitat Lin SJ, Peacock CD, Bahl K (2007) Welsh RM Programmed death-1 (PD-1) defines a transient and dysfunctional oligoclonal T cell population in acute homeostatic proliferation. J Exp Med 204:2321–2333PubMedCrossRef Lin SJ, Peacock CD, Bahl K (2007) Welsh RM Programmed death-1 (PD-1) defines a transient and dysfunctional oligoclonal T cell population in acute homeostatic proliferation. J Exp Med 204:2321–2333PubMedCrossRef
8.
Zurück zum Zitat Keir ME, Francisco LM, Sharpe AH (2007) PD-1 and its ligands in T-cell immunity. Curr Opin Immuno 19:309–314CrossRef Keir ME, Francisco LM, Sharpe AH (2007) PD-1 and its ligands in T-cell immunity. Curr Opin Immuno 19:309–314CrossRef
9.
Zurück zum Zitat Magnusson V, Lindqvist AK, Castillejo-lopez C, Kristjansdottir H, Steinsson K, Grondal G (2000) Fine mapping of the SLEB2 locus involved in susceptibility to systemic lupus erythematosus. Genomics 70:307–314PubMedCrossRef Magnusson V, Lindqvist AK, Castillejo-lopez C, Kristjansdottir H, Steinsson K, Grondal G (2000) Fine mapping of the SLEB2 locus involved in susceptibility to systemic lupus erythematosus. Genomics 70:307–314PubMedCrossRef
10.
Zurück zum Zitat Iwamoto T, Ikari K, Inoue E, Toyama Y, Hara M, Yamanaka H, Tomatsu T, Momohara S, Kamatani N (2007) Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population. J Hum Genet 52:557–560PubMedCrossRef Iwamoto T, Ikari K, Inoue E, Toyama Y, Hara M, Yamanaka H, Tomatsu T, Momohara S, Kamatani N (2007) Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population. J Hum Genet 52:557–560PubMedCrossRef
11.
Zurück zum Zitat Nielsen C, Hansen D, Husby S, Jacobsen BB, Lillevang ST (2003) Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 62:492–497PubMedCrossRef Nielsen C, Hansen D, Husby S, Jacobsen BB, Lillevang ST (2003) Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 62:492–497PubMedCrossRef
12.
Zurück zum Zitat Slot MC, Sokolowska MG, Savelkous KG (2008) Immunoregulatory gene polymorphisms are associated with ANCA-related vasculitis. Clin Immunol 128:39–45PubMedCrossRef Slot MC, Sokolowska MG, Savelkous KG (2008) Immunoregulatory gene polymorphisms are associated with ANCA-related vasculitis. Clin Immunol 128:39–45PubMedCrossRef
13.
Zurück zum Zitat Kroner A, Mehling M, Hemmer B, Rieckmann P, Toyka KV, Maurer M, Wiendl H (2005) PD-1 polymorphism is associated with disease progression in multiple sclerosis. Ann Neurol 58:50–57PubMedCrossRef Kroner A, Mehling M, Hemmer B, Rieckmann P, Toyka KV, Maurer M, Wiendl H (2005) PD-1 polymorphism is associated with disease progression in multiple sclerosis. Ann Neurol 58:50–57PubMedCrossRef
14.
Zurück zum Zitat Newby PR, Roberts-Davies EL, Brand OJ, Heward JM, Franklyn JA, Gough SC, Simmonds MJ (2007) Tag SNP screening of the PDCD1 gene for association with Graves’ disease. Clin Endocrinol 67:125–128CrossRef Newby PR, Roberts-Davies EL, Brand OJ, Heward JM, Franklyn JA, Gough SC, Simmonds MJ (2007) Tag SNP screening of the PDCD1 gene for association with Graves’ disease. Clin Endocrinol 67:125–128CrossRef
15.
Zurück zum Zitat Lee SH, Lee YA, Woo DH, Song R, Park EK, Ryu MH, Kim YH, Kim KS, Hong SJ, Yoo MC, Yang HI (2006) Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population. Arthritis Res Ther 8:R163PubMedCrossRef Lee SH, Lee YA, Woo DH, Song R, Park EK, Ryu MH, Kim YH, Kim KS, Hong SJ, Yoo MC, Yang HI (2006) Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population. Arthritis Res Ther 8:R163PubMedCrossRef
16.
Zurück zum Zitat Prokunina L, Padyukov L, Bennet A, de Faire U, Wiman B, Prince J, Alfredsson L, Klareskog L, Alarcon-Riquelme M (2004) Association of PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope. Arthritis Rheum 50:1770–1773PubMedCrossRef Prokunina L, Padyukov L, Bennet A, de Faire U, Wiman B, Prince J, Alfredsson L, Klareskog L, Alarcon-Riquelme M (2004) Association of PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope. Arthritis Rheum 50:1770–1773PubMedCrossRef
17.
Zurück zum Zitat Kaufman DW, Kelly JP, Jurgelon JM, Anderson T, Issaragrisil S, Wiholm BE, Young NS, Leaverton P, Levy M, Shapiro S (1996) Drugs in the aetiology of agranulocytosis and aplastic anemia. Eur J Haematol 60:23–30 Kaufman DW, Kelly JP, Jurgelon JM, Anderson T, Issaragrisil S, Wiholm BE, Young NS, Leaverton P, Levy M, Shapiro S (1996) Drugs in the aetiology of agranulocytosis and aplastic anemia. Eur J Haematol 60:23–30
18.
Zurück zum Zitat Ferreiros-Vidal I, Gomez-Reino JJ, Barros F, Carracedo A, Carreira P, Gonzalez-Escribano F (2004) Association of PDCD1 with susceptibility to systemic lupus erythematosus: evidence of population-specific effects. Arthritis Rheum 50:2590–2597PubMedCrossRef Ferreiros-Vidal I, Gomez-Reino JJ, Barros F, Carracedo A, Carreira P, Gonzalez-Escribano F (2004) Association of PDCD1 with susceptibility to systemic lupus erythematosus: evidence of population-specific effects. Arthritis Rheum 50:2590–2597PubMedCrossRef
19.
Zurück zum Zitat Velazquez-Cruz R, Orozco L, Espinosa-Rosales F, Carreno-Manjarrez R, Solis-Vallejo E (2007) Association of PDCD1 polymorphisms with childhood-onset systemic lupus erthematosus. Eur J Hum Genet 15:336–341PubMedCrossRef Velazquez-Cruz R, Orozco L, Espinosa-Rosales F, Carreno-Manjarrez R, Solis-Vallejo E (2007) Association of PDCD1 polymorphisms with childhood-onset systemic lupus erthematosus. Eur J Hum Genet 15:336–341PubMedCrossRef
20.
Zurück zum Zitat Kong EK, Prokunina-Olsson L, Wong WH, Lau CS, Chan TM, Alarcon-Riquelme M, Lau YL (2005) A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 52:1058–1062PubMedCrossRef Kong EK, Prokunina-Olsson L, Wong WH, Lau CS, Chan TM, Alarcon-Riquelme M, Lau YL (2005) A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 52:1058–1062PubMedCrossRef
21.
Zurück zum Zitat Prokunina L, Castillejo-lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler DJ, Kristjansdottir H, Grondal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jonssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcon-Segovia D, Steinsson K, Alarcon-Riquelme ME (2002) A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erthematosus. Nat Genet 70:666–669CrossRef Prokunina L, Castillejo-lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler DJ, Kristjansdottir H, Grondal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jonssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcon-Segovia D, Steinsson K, Alarcon-Riquelme ME (2002) A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erthematosus. Nat Genet 70:666–669CrossRef
22.
Zurück zum Zitat Thorburn CM, Prokunina-Olsson L, Sterba KA, Lum RF, Seldin MF, Alarcon-Riquelme ME, Criswell LA (2007) Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort. Genes Immun 8:279–287PubMedCrossRef Thorburn CM, Prokunina-Olsson L, Sterba KA, Lum RF, Seldin MF, Alarcon-Riquelme ME, Criswell LA (2007) Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort. Genes Immun 8:279–287PubMedCrossRef
23.
Zurück zum Zitat Meng Q, Liu X, Yang P, Hou S, Du L, Zhou H, Kijlstra A (2009) PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome. Mol Vis 15:386–392PubMed Meng Q, Liu X, Yang P, Hou S, Du L, Zhou H, Kijlstra A (2009) PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome. Mol Vis 15:386–392PubMed
24.
Zurück zum Zitat Lin SC, Yen JH, Tsai JJ, Tsai WC, Ou TT, Liu HW, Chen CJ (2004) Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum 50:770–775PubMedCrossRef Lin SC, Yen JH, Tsai JJ, Tsai WC, Ou TT, Liu HW, Chen CJ (2004) Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum 50:770–775PubMedCrossRef
25.
Zurück zum Zitat Sakthivel P, Giscombe R, Ramanujam R, Lefverk AK (2009) Polymorphisms in PDCD1 gene are not associated with Wegener’s granulomatosis. Rheumatol Int 29:1247–1250PubMedCrossRef Sakthivel P, Giscombe R, Ramanujam R, Lefverk AK (2009) Polymorphisms in PDCD1 gene are not associated with Wegener’s granulomatosis. Rheumatol Int 29:1247–1250PubMedCrossRef
26.
Zurück zum Zitat Fawwaz S, Nikamo P, Torn C, Landin-Olsson M, Lemmark A, Alarcon-Riquelme M (2007) No evidence of association of the PDCD1 gene with type I diabetes. Diabet Med 24:1473–1477PubMedCrossRef Fawwaz S, Nikamo P, Torn C, Landin-Olsson M, Lemmark A, Alarcon-Riquelme M (2007) No evidence of association of the PDCD1 gene with type I diabetes. Diabet Med 24:1473–1477PubMedCrossRef
27.
Zurück zum Zitat Ni RH, Ihara K, Miyako K, Kuromaru R, Inuo M, Kohno H, Hara T (2007) PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children. Hum Genet 121:223–232PubMedCrossRef Ni RH, Ihara K, Miyako K, Kuromaru R, Inuo M, Kohno H, Hara T (2007) PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children. Hum Genet 121:223–232PubMedCrossRef
28.
Zurück zum Zitat Liu X, Hu LH, Li YR, Chen FH, Ning Y, Yao QF (2011) Programmed cell death 1 gene polymorphisms is associated with ankylosing spondylitis in Chinese Han population. Rheumatol Int 2:209–213CrossRef Liu X, Hu LH, Li YR, Chen FH, Ning Y, Yao QF (2011) Programmed cell death 1 gene polymorphisms is associated with ankylosing spondylitis in Chinese Han population. Rheumatol Int 2:209–213CrossRef
Metadaten
Titel
Polymorphisms in PDCD1 gene are not associated with aplastic anemia in Chinese Han population
verfasst von
Z. J. Ming
H. Hui
M. Miao
Y. H. Qiu
X. G. Zhang
Publikationsdatum
01.10.2012
Verlag
Springer-Verlag
Erschienen in
Rheumatology International / Ausgabe 10/2012
Print ISSN: 0172-8172
Elektronische ISSN: 1437-160X
DOI
https://doi.org/10.1007/s00296-011-2127-0

Weitere Artikel der Ausgabe 10/2012

Rheumatology International 10/2012 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Notfall-TEP der Hüfte ist auch bei 90-Jährigen machbar

26.04.2024 Hüft-TEP Nachrichten

Ob bei einer Notfalloperation nach Schenkelhalsfraktur eine Hemiarthroplastik oder eine totale Endoprothese (TEP) eingebaut wird, sollte nicht allein vom Alter der Patientinnen und Patienten abhängen. Auch über 90-Jährige können von der TEP profitieren.

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

25.04.2024 Hypotonie Nachrichten

Wenn unter einer medikamentösen Hochdrucktherapie der diastolische Blutdruck in den Keller geht, steigt das Risiko für schwere kardiovaskuläre Ereignisse: Darauf deutet eine Sekundäranalyse der SPRINT-Studie hin.

Bei schweren Reaktionen auf Insektenstiche empfiehlt sich eine spezifische Immuntherapie

Insektenstiche sind bei Erwachsenen die häufigsten Auslöser einer Anaphylaxie. Einen wirksamen Schutz vor schweren anaphylaktischen Reaktionen bietet die allergenspezifische Immuntherapie. Jedoch kommt sie noch viel zu selten zum Einsatz.

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

25.04.2024 Hypertonie Nachrichten

Beginnen ältere Männer im Pflegeheim eine Antihypertensiva-Therapie, dann ist die Frakturrate in den folgenden 30 Tagen mehr als verdoppelt. Besonders häufig stürzen Demenzkranke und Männer, die erstmals Blutdrucksenker nehmen. Dafür spricht eine Analyse unter US-Veteranen.

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.