Background: Coeliac disease ( CD) is characterized by increased immunological responsiveness to ingested gliadin in genetically predisposed individuals. This genetic predisposition is not completely defined. A dysregulation of immunoglobulins (Ig) is present in CD: since antiendomysium antibodies (anti-EMA) are of the IgA class. One polymorphic enhancer within the locus control region (LCR) of the immunoglobulin heavy chain cluster at the 3' of the C alpha-1 gene was investigated. The correlation of the penetrance of the four different alleles of the HS1,2-A enhancer of the LCR-1 3' to C alpha-1 in CD patients compared to a control population was analysed. Methods: A total of 115 consecutive CD outpatients, on a gluten-free diet, and 248 healthy donors, age- and sex-matched, from the same geographical area were enrolled in the study. HS1,2-A allele frequencies were investigated by nested polymerase chain reaction (PCR). Results: The frequency of allele 2 of the enhancer HS1,2-A gene was increased by 30.8% as compared to the control frequency. The frequency of homozygosity for allele 2 was significantly increased in CD patients. Crude odds ratio ( OR) showed that those with 2/2 and 2/4 ( OR 2.63, P < 0.001 and OR 2.01, P = 0.03) have a significantly higher risk of developing the disease. In contrast, allele 1/2 may represent a protective genetic factor against CD ( OR 0.52, P = 0.01). Conclusions: These data provide further evidence of a genetic predisposition in CD. Because of the Ig dysregulation in CD, the enhancer HS1,2-A may be involved in the pathogenesis.
Frezza, D., Giambra, V., Cianci, R., Fruscalzo, A., Giufre, M., Cammarota, G., et al. (2004). Increased frequency of the immunoglobulin enhancer HS1,2 allele 2 in coeliac disease. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY, 39(11), 1083-1087.
|Tipologia:||Articolo su rivista|
|Citazione:||Frezza, D., Giambra, V., Cianci, R., Fruscalzo, A., Giufre, M., Cammarota, G., et al. (2004). Increased frequency of the immunoglobulin enhancer HS1,2 allele 2 in coeliac disease. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY, 39(11), 1083-1087.|
|IF:||Con Impact Factor ISI|
|Settore Scientifico Disciplinare:||Settore BIO/18 - Genetica|
|Revisione (peer review):||Sì, ma tipo non specificato|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1080/00365520410007999|
|Stato di pubblicazione:||Pubblicato|
|Data di pubblicazione:||2004|
|Titolo:||Increased frequency of the immunoglobulin enhancer HS1,2 allele 2 in coeliac disease|
|Autori:||Frezza, D; Giambra, V; Cianci, R; Fruscalzo, A; Giufre, M; Cammarota, G; Martinez-Labarga, C; Rickards, O; Scibilia, G; Sferlazzas, C; Bartolozzi, F; Starnino, S; Magazzu, G; Gasbarrini, GB; Pandolfi, F;|
|Appare nelle tipologie:||01 - Articolo su rivista|