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.
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.
André
Marc F J
MF
Inserm, U931, GReD, Faculté de Médecine, Clermont-Ferrand, France. mandre@chu-clermontferrand.fr
Aumaître
Olivier
O
Grateau
Gilles
G
Chamaillard
Mathias
M
Costedoat-Chalumeau
Nathalie
N
Cardoso
Marie-Céleste
MC
Henry-Berger
Joëlle
J
Ramakrishna
Balakrishnan S
BS
Delpech
Marc
M
Piette
Jean-Charles
JC
Creveaux
Isabelle
I
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
D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C486382:PSTPIP1 protein, human