NDLI: Influence of HLA on clinical and analytical features of pediatric celiac disease

Content Provider	Springer Nature : BioMed Central
Author	Martínez-Ojinaga, Eva Fernández-Prieto, Marta Molina, Manuel Polanco, Isabel Urcelay, Elena Núñez, Concepción
Abstract	Background Celiac disease (CD) is triggered by gluten and related prolamines in genetically susceptible individuals. We aimed to investigate the influence of HLA-DQ genotypes in clinical, serological and histological features related to CD. Methods A retrospective observational study was performed including 463 Spanish patients with biopsy-proven CD. Clinical, serological, histological and HLA-DQ genetic data were collected from each participant. The presence of a family history of CD was also considered. Bivariate (chi-square tests or the Fisher’s exact test) and multivariate (logistic regression after adjusting for age and sex) analyses were performed to assess the association between clinical and laboratory parameters with HLA-DQ. Results A predominance of females (62%), classical clinical presentation (86%) and positive anti-transglutaminase 2/endomysium antibodies (99%) was observed in our sample, with a mean age at onset of 2.6 ± 0.1 years. Five percent of our patients were first-degree relatives of subjects with CD, with HLA-DQ genetics showing increased homozygosity of HLA-DQ2.5 (p = 0.03) and HLA-DQ8 (p = 0.09). In the non-CD family history group, an association between delayed disease onset and HLA-DQ8 carriage was observed (p < 0.001), besides an influence of HLA-DQB102 gene dosage on clinical presentation and severity of histological damage (after adjusting for age and sex, p = 0.05 and p = 0.02, respectively) and a trend towards presence of specific antibodies (p = 0.09). These associations could not be evaluated properly in the group of patients with affected first-degree relatives due to the small sample size. Conclusions HLA-DQ genotypic frequencies differ slightly between CD patients depending on their family history of CD. In patients lacking CD first-degree relatives, carriage of HLA-DQ2.5 with double dose of HLA-DQB102 seems to be associated with classical clinical presentation and more severe histological damage.
Related Links	https://bmcgastroenterol.biomedcentral.com/counter/pdf/10.1186/s12876-019-1014-0.pdf
Ending Page	6
Page Count	6
Starting Page	1
File Format	HTM / HTML
DOI	10.1186/s12876-019-1014-0
Journal	BMC Gastroenterology
Issue Number	1
Volume Number	19
Language	English
Publisher	BioMed Central
Publisher Date	2019-06-13
Access Restriction	Open
Subject Keyword	Gastroenterology Internal Medicine Hepatology HLA-DQ Clinical symptoms Serology Atrophy Diagnosis
Content Type	Text
Resource Type	Article
Subject	Gastroenterology
Journal Impact Factor	2.5/2023
5-Year Journal Impact Factor	2.7/2023

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