1. 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.
- Author
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André MF, Aumaître O, Grateau G, Chamaillard M, Costedoat-Chalumeau N, Cardoso MC, Henry-Berger J, Ramakrishna BS, Delpech M, Piette JC, and Creveaux I
- Subjects
- Abscess epidemiology, Adolescent, Adult, Animals, Base Sequence, Case-Control Studies, Child, Crohn Disease epidemiology, Exons, Female, France epidemiology, Gene Frequency, Genetic Association Studies, Genetic Testing, Humans, India epidemiology, Introns, Male, Mice, Middle Aged, Molecular Sequence Data, Phenotype, Polymorphism, Single Nucleotide, Registries, Risk Assessment, Risk Factors, Syndrome, Young Adult, Abscess genetics, Adaptor Proteins, Signal Transducing genetics, Crohn Disease genetics, Cytoskeletal Proteins genetics, Microsatellite Repeats, Promoter Regions, Genetic
- 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.
- Published
- 2010
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