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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

André, Marc F. J ; Aumaître, Olivier ; Grateau, Gilles ; Chamaillard, Mathias ; Costedoat-Chalumeau, Nathalie ; Cardoso, Marie-Céleste ; Henry-Berger, Joëlle ; Ramakrishna, Balakrishnan S ; Delpech, Marc ; Piette, Jean-Charles ; Creveaux, Isabelle

Digestive diseases and sciences, 2010-06, Vol.55 (6), p.1681-1688 [Periódico revisado por pares]

Boston: Boston : Springer US

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Título:
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
Autor: André, Marc F. J ; Aumaître, Olivier ; Grateau, Gilles ; Chamaillard, Mathias ; Costedoat-Chalumeau, Nathalie ; Cardoso, Marie-Céleste ; Henry-Berger, Joëlle ; Ramakrishna, Balakrishnan S ; Delpech, Marc ; Piette, Jean-Charles ; Creveaux, Isabelle
Assuntos: Abscess ; Abscess - epidemiology ; Abscess - genetics ; Adaptor Proteins, Signal Transducing - genetics ; Adolescent ; Adult ; Animals ; Base Sequence ; Biochemistry ; Biological and medical sciences ; Case-Control Studies ; Child ; Crohn Disease - epidemiology ; Crohn Disease - genetics ; Crohn's disease ; Cytoskeletal Proteins - genetics ; Ethylenediaminetetraacetic acid ; Exons ; Feeding. Feeding behavior ; Female ; France - epidemiology ; Fundamental and applied biological sciences. Psychology ; Gastroenterology ; Gastroenterology. Liver. Pancreas. Abdomen ; Gene expression ; Gene Frequency ; Genes ; Genetic aspects ; Genetic Association Studies ; Genetic Testing ; Hepatology ; Humans ; India - epidemiology ; Introns ; Male ; Medical sciences ; Medicine ; Medicine & Public Health ; Mice ; Microsatellite Repeats ; Middle Aged ; Molecular Sequence Data ; Oncology ; Original Article ; Other diseases. Semiology ; Phenotype ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Registries ; Risk Assessment ; Risk Factors ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Syndrome ; Transplant Surgery ; Vertebrates: anatomy and physiology, studies on body, several organs or systems ; Young Adult
É parte de: Digestive diseases and sciences, 2010-06, Vol.55 (6), p.1681-1688
Notas: http://dx.doi.org/10.1007/s10620-009-0929-7
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Descrição: 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.
Editor: Boston: Boston : Springer US
Idioma: Inglês

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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

André, Marc F. J ; Aumaître, Olivier ; Grateau, Gilles ; Chamaillard, Mathias ; Costedoat-Chalumeau, Nathalie ; Cardoso, Marie-Céleste ; Henry-Berger, Joëlle ; Ramakrishna, Balakrishnan S ; Delpech, Marc ; Piette, Jean-Charles ; Creveaux, Isabelle

Boston: Boston : Springer US

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