ArticleDigestive diseases and sciences2010
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.
Article in Digestive diseases and sciences, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 41 citations in OpenAlex.
- Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease.Biomedicines · 2022Article
- An Integrated Approach to Unravel Hidradenitis Suppurativa Etiopathogenesis.Frontiers in immunology · 2019Review
- Unusual neurologic presentation of aseptic abscesses syndrome.Neurology(R) neuroimmunology & neuroinflammation · 2018Article
- Article
- Observational
- Multiple aseptic splenic abscesses in a 15 year old patient.BMC gastroenterology · 2014Article
- New described dermatological disorders.BioMed research international · 2014Review
- Untangling the web of systemic autoinflammatory diseases.Mediators of inflammation · 2014Review
- Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.Current genomics · 2010Article
- Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis.Current opinion in rheumatology · 2010Review
- A Case Study of PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory Syndrome Masquerading as Inflammatory Bowel Disease.Inflammatory intestinal diseasesArticle
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Authors and funding
11 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAseptic 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.
resultsOne 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.
conclusionsThe 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.
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