Erschienen in:
01.06.2010 | Original Article
Longest Form of CCTG Microsatellite Repeat in the Promoter of the CD2BP1/PSTPIP1 Gene Is Associated with Aseptic Abscesses and with Crohn Disease in French Patients
verfasst von:
Marc F. J. André, Olivier Aumaître, Gilles Grateau, Mathias Chamaillard, Nathalie Costedoat-Chalumeau, Marie-Céleste Cardoso, Joëlle Henry-Berger, Balakrishnan S. Ramakrishna, Marc Delpech, Jean-Charles Piette, Isabelle Creveaux
Erschienen in:
Digestive Diseases and Sciences
|
Ausgabe 6/2010
Einloggen, um Zugang zu erhalten
Abstract
Purpose
Aseptic abscesses syndrome (AA) is an inflammatory disease in which non-infectious deep abscesses develop; these respond quickly to corticosteroids. AA is associated with Crohn disease (CD) in 57% of cases and with neutrophilic dermatosis (ND) in 20%. Pyoderma gangrenosum is usually a sporadic ND. A hereditary autosomal dominant syndromic kind of pyoderma gangrenosum, the PAPA syndrome, is linked to mutations in the CD2BP1/PSTPIP1 gene. We systematically screened this gene in French AA patients.
Results
One microsatellite (CCTG)n with 3 alleles was identified in the promoter. The longest form (CCTG)7 was significantly more frequent in AA patients than in French controls (P = 0.0154). We also found an association of the (CCTG)7 allele with CD in French patients (P = 0.0351). This association was not found in a sample of Indian patients.
Conclusions
The CCTG repeat in the PSTPIP1 promoter may play a role in the pathogenesis of AA and of CD. Further investigations are required to demonstrate the possible modulation of gene expression by the (CCTG)n motif.