HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease

  title={HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease},
  author={Rita D{\'e}sir{\'e}e Jores and Fulvia Frau and Francesco Cucca and Maria Grazia Clemente and Sandra Orr{\`u} and Marco Rais and Stefano De Virgiliis and Mauro Congia},
  journal={Scandinavian Journal of Gastroenterology},
  pages={48 - 53}
Objective. Celiac disease (CD) is a T-lymphocyte-mediated small intestinal enteropathy triggered and maintained by dietary gluten, with a strong genetic component mapping to the HLA genes encoding for the class II DQ(α1*0501, β1*02) molecule. Damage of the small intestine may cause a variety of clinical signs ranging from isolated long-standing iron-deficiency anemia refractory to iron supplementation to forms of severe malnutrition that may become life threatening. However, patients carrying… 

HLA-DQB1 Haplotypes and their Relation to Oral Signs Linked to Celiac Disease Diagnosis

Results showed that the presence of the HLA-DQB1*02 allele influences the development of oral signs in a dose-dependent manner and also how the Hla haplotype connected to oral signs could have a fundamental role for the diagnosis of atypical forms of CD.

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

In patients lacking CD first-degree relatives, carriage of HLA-DQ2.5 with double dose of Hla-DQB1*02 seems to be associated with classical clinical presentation and more severe histological damage, andHLA-D Q genotypic frequencies differ slightly between CD patients depending on their family history of CD.

Phenotypic variance in childhood coeliac disease and the HLA-DQ/DR dose effect

With the exception of a greater frequency of abdominal distension and fewer non-gastrointestinal symptoms in the substantial HLA-risk group, there were no significant differences in clinical characteristics or degree of severity of the small-bowel histological findings between the children in the different HLA -risk groups.

Celiac disease in pediatric patients according to HLA genetic risk classes: a retrospective observational study

The results suggest an effect of the DQB1–02 allele not only on the level of antibodies to tTG, but possibly also on liver involvement in CD pediatric patients.

Influence of HLA-DQ2 and DQ8 on Severity in Celiac Disease

The increased frequency of DQB1*0302 and the reduced frequency of HLA-DQA1*02 homozygosity in potential CD is consistent with the idea that different clinical/pathologic evolutions might be related to different immunogeneses.

Searching for Celiac Disease Screening-detected celiac disease in an HLA-genotyped birth cohort

HLA-genotyping could be used to select large populations to be screened for celiac disease and have systemically elevated pro-inflammatory cytokines and low BMD but normal values on a gluten-free diet, indicating that children with screening-detected Celiac disease could benefit from early identification and treatment.

Oral Signs and HLA-DQB1∗02 Haplotypes in the Celiac Paediatric Patient: A Preliminary Study

The obtained results identified both the fundamental role that dentists can play in early diagnosis of CD, as well as the possible role of HLA haplotype analysis in arousing suspicion of atypical forms of the disease.

Low-Risk Human Leukocyte Antigen Genes and Mild Villous Atrophy Typify Celiac Disease With Immunoglobulin A Deficiency

CD-IgAD is associated with MVA, low-risk HLA class II genes, an increased number of EGDs and autoimmune liver diseases.

Serology in adults with celiac disease: limited accuracy in patients with mild histological lesions

The severity of mucosal damage is the main factor governing the detectability of serological markers of CD and the sensitivity of serology testing is questionable in patients with minimal lesions.

Determination of High-Resolution HLA-DQB1 Suballeles and IL-17 Polymorphisms in Turkish Pediatric Patients.

IL-17A (rs2275913) polymorphism genotype frequency was found to be significant in the patient group compared with the control group, and the most common HLA-DQB1 suballele was observed as DQB1*02:01.



Current concepts of celiac disease pathogenesis.

Our knowledge of celiac disease pathogenesis has recently made rapid progress. The disorder is now considered the result of a complex interplay of intrinsic (genetic) and variable extrinsic

Lack of correlation between genotype and phenotype in celiac disease.

There is no evidence that clinical features of celiac disease are associated with different HLA genotypes, and genes outside the HLA may play a relevant role.

Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease

A gene dose effect of the DQB1*0201 allele on the clinical heterogeneity of CD and on the rate of recovery from villous atrophy in patients on a gluten-free diet is demonstrated.

HLA-DQA1 and HLA-DQB1 Genetic Markers and Clinical Presentation in Celiac Disease

The genetic markers investigated may prove useful for diagnosing and managing celiac disease and have a moderate strength and must be confirmed by other studies.

The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence.

The distribution of DQ genes in the Saharawi population only provides a partial explanation for the high prevalence of CD, and other factors, such as rapidly changing dietary habits and/or non-DQ genes, may also play some role.

Increased prevalence of Helicobacter pylori infection in patients with celiac disease

The retrospective data showed a significant higher seroprevalence of H. pylori infection among CD patients as compared to healthy controls, and the surprising finding of this study was a lower prevalence of the CagA-positive H.pylori strains in infected subjects with CD than in infected controls.

HLA genotypes and the increased incidence of coeliac disease in Sweden.

It is suggested that Swedish CD patients do not differ in genetic susceptibility compared with other populations and no evidence was found suggesting that the increase would be a result of more frequent development of disease in individuals carrying less predisposing HLA genotypes.

The HLA-DQ2 gene dose effect in celiac disease is directly related to the magnitude and breadth of gluten-specific T cell responses

  • W. VaderD. Stepniak F. Koning
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 2003
Evidence is provided that the disease-associated HLA-DQ2.5 molecule presents a large repertoire of gluten peptides, whereas the non-disease- associated HLA.2.2 molecule can present only a subset ofThese results correlated with peptide binding to the antigen-presenting cells.

The Intestinal T Cell Response to α-Gliadin in Adult Celiac Disease Is Focused on a Single Deamidated Glutamine Targeted by Tissue Transglutaminase

Modifications of anchor residues that lead to an improved affinity for major histocompatibility complex (MHC), and altered conformation of the peptide–MHC complex may be a critical factor leading to T cell responses to gliadin and the oral intolerance of gluten found in CD.