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Background

Celiac disease (CD) is an autoimmune disease that affects genetically predisposed individuals. The HLA-DQ2 heterodimer is present in nearly 90% of patients while HLA-DQ8 is found in the remaining 10%.

Aim

To study the characteristics of CD in pediatric patients in Cantabria and their first-degree relatives, with special emphasis on factors related to haplotype, serology, and forms of clinical presentation.

Patients and methods

Eighty-six patients with CD and 215 first-degree relatives were HLA genotyped. Clinical, laboratory, immunologic, and histological data were obtained from all patients.

Results

Clinical presentation was classical in 95% of the patients and mono-symptomatic in the remaining 5%. Anti-gliadin antibodies (AGA) and anti-transglutaminase antibodies (ATGA) were positive in 95% of the patients and negative in 5% (all with IgA deficiency). DQ2 was found in 71% of the patients (homozygotes or heterozygotes) and DQ8 was found in 9.5%. No heterodimers of risk were found in 22%. CD was found in six relatives (three were positive for AGA and four were positive for ATGA). Forty-nine percent of the relatives carried the DQ2 heterodimer and 15% the DQ8 heterodimer; no heterodimers of risk were found in 40%.

Conclusions

The most prevalent HLA found in patients with CD in the autonomous region of Cantabria was DQ2 (71%). This prevalence is clearly lower than that reported in other Spanish regions. The prevalence of CD among first-degree relatives was similar to that found in other studies performed in Spain (2.8%). Our data support the need for systematic study of the first-degree relatives of patients with CD."xsd:string
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http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/author"Ruiz de Alegria C."xsd:string
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/author"Diaz de Entresotos Villazan L."xsd:string
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/author"Fernandez Garcia P."xsd:string
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/author"Lopez Hoyos M."xsd:string
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/author"Sanchez Velasco P."xsd:string
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/author"de la Rubia Fernandez L."xsd:string
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/date"2008"xsd:gYear
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/name"Gastroenterol Hepatol"xsd:string
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/pages"53-58"xsd:string
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/title"[Study of celiac disease in the pediatric population of Cantabria (Spain) and first-degree relatives]."xsd:string
http://purl.uniprot.org/citations/18279642http://purl.uniprot.org/core/volume"31"xsd:string
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