Immunoregulatory gene polymorphisms are associated with ANCA-related vasculitis

T cell activation is regulated by inhibitory molecules such as PD-1 and CTLA-4, whose expression may be affected by gene polymorphisms. Increased T cell activation is present in patients with ANCA-associated vasculitis (AAV). We investigated two single-nucleotide polymorphisms (SNPs) in PDCD1 and fi...

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Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 128(2008), 1 vom: 15. Juli, Seite 39-45
1. Verfasser: Slot, Marjan C (VerfasserIn)
Weitere Verfasser: Sokolowska, Milena G, Savelkouls, Kim G, Janssen, Rob G J H, Damoiseaux, Jan G M C, Tervaert, Jan Willem Cohen
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2008
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Antibodies, Antineutrophil Cytoplasmic Antigens, CD Apoptosis Regulatory Proteins CTLA-4 Antigen CTLA4 protein, human PDCD1 protein, human Programmed Cell Death 1 Receptor
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245 1 0 |a Immunoregulatory gene polymorphisms are associated with ANCA-related vasculitis 
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520 |a T cell activation is regulated by inhibitory molecules such as PD-1 and CTLA-4, whose expression may be affected by gene polymorphisms. Increased T cell activation is present in patients with ANCA-associated vasculitis (AAV). We investigated two single-nucleotide polymorphisms (SNPs) in PDCD1 and five polymorphisms in CTLA4 in 102 patients with AAV and 188 healthy controls (HC). The distributions of the PD-1.3 and PD-1.5 SNPs, and the distributions of the CTLA4 promoter polymorphisms -1722T/C, -1661A/G, -318 C/T, and the (AT)(n) microsatellite in the 3'-untranslated region of CTLA4, did not differ between patients and HC. However, the +49 G allele was significantly more often present in patients with AAV. Furthermore, the co-occurrence of the PD-1.5 T allele with CTLA4 +49 AA homozygosity (i.e., the absence of a G allele) was less often present in patients compared to HC. These genetic polymorphisms may lead to hyperreactivity of T cells and thus may contribute to the pathogenesis of AAV 
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650 7 |a Antigens, CD  |2 NLM 
650 7 |a Apoptosis Regulatory Proteins  |2 NLM 
650 7 |a CTLA-4 Antigen  |2 NLM 
650 7 |a CTLA4 protein, human  |2 NLM 
650 7 |a PDCD1 protein, human  |2 NLM 
650 7 |a Programmed Cell Death 1 Receptor  |2 NLM 
700 1 |a Sokolowska, Milena G  |e verfasserin  |4 aut 
700 1 |a Savelkouls, Kim G  |e verfasserin  |4 aut 
700 1 |a Janssen, Rob G J H  |e verfasserin  |4 aut 
700 1 |a Damoiseaux, Jan G M C  |e verfasserin  |4 aut 
700 1 |a Tervaert, Jan Willem Cohen  |e verfasserin  |4 aut 
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856 4 0 |u http://dx.doi.org/10.1016/j.clim.2008.03.506  |3 Volltext 
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