title: 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.
abstract: OBJECTIVE
  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.
authors.affiliation: Inserm, U931, GReD, Faculté de Médecine, Clermont-Ferrand, France. mandre@chu-clermontferrand.fr
authors.forename: Marc F J
authors.initials: MF
authors.lastname: André
authors.forename: Olivier
authors.initials: O
authors.lastname: Aumaître
authors.forename: Gilles
authors.initials: G
authors.lastname: Grateau
authors.forename: Mathias
authors.initials: M
authors.lastname: Chamaillard
authors.forename: Nathalie
authors.initials: N
authors.lastname: Costedoat-Chalumeau
authors.forename: Marie-Céleste
authors.initials: MC
authors.lastname: Cardoso
authors.forename: Joëlle
authors.initials: J
authors.lastname: Henry-Berger
authors.forename: Balakrishnan S
authors.initials: BS
authors.lastname: Ramakrishna
authors.forename: Marc
authors.initials: M
authors.lastname: Delpech
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Piette
authors.forename: Isabelle
authors.initials: I
authors.lastname: Creveaux
mesh_terms: D000038:Abscess / Q000453:epidemiology / Q000235:genetics*; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000818:Animals; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D005602:France / Q000453:epidemiology; D005787:Gene Frequency; D056726:Genetic Association Studies; D005820:Genetic Testing; D006801:Humans; D007194:India / Q000453:epidemiology; D007438:Introns; D008297:Male; D051379:Mice; D018895:Microsatellite Repeats; D008875:Middle Aged; D008969:Molecular Sequence Data; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012042:Registries; D018570:Risk Assessment; D012307:Risk Factors; D013577:Syndrome; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C486382:PSTPIP1 protein, human