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Titolo:
A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis
Autore:
Borgmann, S; Endisch, G; Urban, S; Sitter, T; Fricke, H;
Indirizzi:
Univ Munich, Dept Internal Med, D-80336 Munich, Germany Univ Munich Munich Germany D-80336 Internal Med, D-80336 Munich, Germany
Titolo Testata:
CLINICAL IMMUNOLOGY
fascicolo: 2, volume: 98, anno: 2001,
pagine: 244 - 248
SICI:
1521-6616(200102)98:2<244:ALDBGA>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
CORTICOSTEROID-BINDING GLOBULIN; SYSTEMIC VASCULITIS; ALPHA(1)-ANTITRYPSIN DEFICIENCY; REPEAT POLYMORPHISM; C INHIBITOR; ALPHA-1-ANTITRYPSIN; ALLELE; ALPHA-1-ANTICHYMOTRYPSIN; AUTOANTIBODIES; NEUTROPHILS;
Keywords:
vasculitis; ANCA; alpha 1-antitrypsin; protease/protease inhibitor imbalance;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Borgmann, S Univ Wurzburg, Josef Schneider Str 2, D-97080 Wurzburg, Germany Univ Wurzburg Josef Schneider Str 2 Wurzburg Germany D-97080
Citazione:
S. Borgmann et al., "A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis", CLIN IMMUNO, 98(2), 2001, pp. 244-248

Abstract

The frequency of carriers of the alpha1-antitrypsin (alpha1-AT) deficiencyallele PI*Z is increased in patients with Wegener's granulomatosis (WG). The polymorphic protease inhibitor (PI) gene is part of a cluster of serine protease inhibitor (serpin) genes (AACT; alpha1-antichymotrypsin, PCI; protein C inhibitor, CBG; corticosteroid binding globulin, PIL; PI-like pseudogene) at chromosome 14q32.1. In this study we investigated whether the serpin gene cluster contributes to the background of Wegener's granulomatosis. Therefore, phenotyping of alpha1-AT was performed and simple tandem repeat polymorphisms (STRP) in the genes for CBG, PI, and PCI as well as two STRP (D14S55 and D14S48) flanking the centromeric and one (D14S51) flanking the telomeric region of the gene cluster were examined in a population of 79 patients with WG and 128 unrelated healthy controls. In WG; patients an increased frequency of the PI*Z defective allele is demonstrated as well as a linkage disequilibrium between all members of this gene cluster plus the centromeric and telomeric STRP. These results indicate an involvement of the serpin genes in the pathogenesis of Wegener's granulomatosis and it is possible that other genes located in the vicinity of D14S55 or D14S51 contribute to the genetic background of the disease. (C) 2000 Academic Press.

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Documento generato il 06/04/20 alle ore 00:32:31