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 [10.1080/00365520410007999].

Increased frequency of the immunoglobulin enhancer HS1,2 allele 2 in coeliac disease

FREZZA, DOMENICO;MARTINEZ-LABARGA, MARIA CRISTINA;RICKARDS, OLGA;
2004

Abstract

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.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/18 - Genetica
English
Con Impact Factor ISI
Coeliac disease; Genetic predisposition; Immunoglobulin dysregulation; Immunoglobulin enhancer HS1,2-A; Non-HLA factors; Polymorphism
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 [10.1080/00365520410007999].
Frezza, D; Giambra, V; Cianci, R; Fruscalzo, A; Giufre, M; Cammarota, G; MARTINEZ-LABARGA, Mc; Rickards, O; Scibilia, G; Sferlazzas, C; Bartolozzi, F; Starnino, S; Magazzu, G; Gasbarrini, G; Pandolfi, F
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/33019
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