Increased frequency of the immunoglobulin enhancer HS1,2 allele 2 in coeliac disease.
Scand J Gastroenterol
; 39(11): 1083-7, 2004 Nov.
Article
em En
| MEDLINE
| ID: mdl-15545166
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença Celíaca
/
Elementos Facilitadores Genéticos
/
Cadeias Pesadas de Imunoglobulinas
/
Frequência do Gene
Limite:
Adult
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Female
/
Humans
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Male
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article