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Genetics of Celiac Disease
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Genetics of Celiac Disease

A special issue of Medical Sciences (ISSN 2076-3271).

Deadline for manuscript submissions: closed (30 September 2016) | Viewed by 23836

Special Issue Editor

Dr. Francesca Megiorni

E-Mail Website
Guest Editor
Department of Experimental Medicine, SAPIENZA University of Rome, 00161 Rome, Italy
Interests: epigenetics; targeted therapy; regenerative medicine; molecular and cellular biology; network medicine; genetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Celiac Disease (CD) is a complex autoimmune disorder that is triggered by gluten ingestion in genetically predisposed individuals. CD is one of the commonest diseases with a prevalence of 1:100 in the general population and a female:male ratio of approximately 2:1. CD has a multifactorial etiology with a very strong genetic component, in which the Human Leukocyte Antigen (HLA)-DQ is the best characterized region associated to CD susceptibility. About 90–95% of CD patients carry HLA-DQ2 and/or DQ8 heterodimers, encoded by particular HLA-DQA1 and HLA-DQB1 alleles, and very rarely CD occurs in individuals negative for these DQ predisposing markers. In the last years, an increasing number of studies has also established that numerous non-HLA genes, especially involved in innate/adaptive immune response or intestinal permeability, are related to CD predisposition, each with a modest but additive contribution to the disease development. The purpose of this special issue is to provide a summary of data describing the utility of HLA molecular typing and its high negative predictive value in the CD diagnostic testing algorithm (screening of CD first-degree relatives, discrepancy of serological/histological results, comorbidity of autoimmune or chromosomal disorders). This Special Issue also shows the impact of non-HLA variants in CD susceptibility indicating that the combination of HLA and non-HLA genetic tests may improve the accuracy of CD risk prediction.

Dr. Francesca Megiorni
Guest Editor

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Keywords

  • Celiac Disease
  • HLA-DQ2
  • HLA-DQ8
  • HLA molecular typing
  • CD risk
  • non-HLA CD predisposing variants
  • genetic test

Published Papers (3 papers)

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Research

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Article
HLA Typing and Celiac Disease in Moroccans
by Daniela Piancatelli, Imane Ben El Barhdadi, Khadija Oumhani, Pierluigi Sebastiani, Alessia Colanardi and Abdellah Essaid
Med. Sci. 2017, 5(1), 2; https://doi.org/10.3390/medsci5010002 - 06 Jan 2017
Cited by 15 | Viewed by 5476
Abstract
Genetic and environmental factors are responsible for differences in the prevalence of some diseases across countries. Human leukocyte antigen (HLA) allele frequencies in North African populations show some differences in their distribution compared to Europeans, Mediterraneans, and sub-Saharans, and some specific alleles and [...] Read more.
Genetic and environmental factors are responsible for differences in the prevalence of some diseases across countries. Human leukocyte antigen (HLA) allele frequencies in North African populations show some differences in their distribution compared to Europeans, Mediterraneans, and sub-Saharans, and some specific alleles and haplotypes could be clinically relevant. Celiac disease (CD) has been fast increasing in prevalence in North Africa; but few immunogenetic data are available for this area, in which a high prevalence of the disease has been described. In this report, we assess and discuss results of HLA class II (HLA-DQA1/DQB1/DRB1) typing in Moroccan patients with CD and compare them with a control population from Morocco—genetically well characterized—and with other North African, Mediterranean, and European populations. The classical HLA-DQ associations were confirmed in Moroccans with CD. The high frequency of DQ2.5 homozygosity (45.2%) found in Moroccans with CD was noteworthy as compared with other populations (23%–32%). The genetic risk gradient for CD, identified by previous studies, has been confirmed in Moroccans with some differences, mainly concerning DQ8 genotypes. This study provides the immunogenetic framework of CD in Moroccans and confirms the need to learn more about associations with additional HLA and non-HLA genetic factors. Full article
(This article belongs to the Special Issue Genetics of Celiac Disease)
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581 KiB  
Article
Evaluation of Multiple Diagnostic Indicators in Comparison to the Intestinal Biopsy as the Golden Standard in Diagnosing Celiac Disease in Children
by Elisabet Hollén, Malin Farnebäck, Tony Forslund, Karl-Eric Magnusson, Tommy Sundqvist and Karin Fälth-Magnusson
Med. Sci. 2016, 4(4), 20; https://doi.org/10.3390/medsci4040020 - 25 Nov 2016
Cited by 1 | Viewed by 3788
Abstract
Celiac disease (CD) is a chronic small intestinal enteropathy triggered by gluten in genetically predisposed individuals. The susceptibility is strongly associated with certain human leukocyte antigen (HLA)-genes, but efforts are being made in trying to find non-HLA genes that are predictive for the [...] Read more.
Celiac disease (CD) is a chronic small intestinal enteropathy triggered by gluten in genetically predisposed individuals. The susceptibility is strongly associated with certain human leukocyte antigen (HLA)-genes, but efforts are being made in trying to find non-HLA genes that are predictive for the disease. The criteria for diagnosing CD were previously based primarily on histologic evaluation of small intestinal biopsies, but nowadays are often based only on blood tests and symptoms. In this context, we elucidated the accuracy of three diagnostic indicators for CD, alone or in combination. Genetic analyses of HLA-type and nine single nucleotide polymorphisms (SNPs) known to be associated with CD were performed in 177 children previously investigated for the suspicion of CD. CD was confirmed in 109 children, while 68 were considered non-celiacs. The antibodies and urinary nitrite/nitrate concentrations of all of them were measured. The combinations of all the variables used in the study would classify 93% of the study population in the correct diagnostic group. The single best predictors were antibodies (i.e., anti-endomysium immunoglobulin A (IgA) (EMA) and transglutaminase IgA (TGA)), followed by HLA-type and nitric oxide (NO)-metabolites. The nine SNPs used did not contribute to the right diagnoses. Although our control group consisted of children with mostly gastrointestinal symptoms, the presented methodology predicted a correct classification in more than 90% of the cases. Full article
(This article belongs to the Special Issue Genetics of Celiac Disease)
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Review

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Review
Why Oats Are Safe and Healthy for Celiac Disease Patients
by Luud J. W. J. Gilissen, Ingrid M. Van der Meer and Marinus J. M. Smulders
Med. Sci. 2016, 4(4), 21; https://doi.org/10.3390/medsci4040021 - 26 Nov 2016
Cited by 27 | Viewed by 14069
Abstract
The water-insoluble storage proteins of cereals (prolamins) are called “gluten” in wheat, barley, and rye, and “avenins” in oat. Gluten can provoke celiac disease (CD) in genetically susceptible individuals (those with human leukocyte antigen (HLA)-DQ2 or HLA-DQ8 serotypes). Avenins are present at a [...] Read more.
The water-insoluble storage proteins of cereals (prolamins) are called “gluten” in wheat, barley, and rye, and “avenins” in oat. Gluten can provoke celiac disease (CD) in genetically susceptible individuals (those with human leukocyte antigen (HLA)-DQ2 or HLA-DQ8 serotypes). Avenins are present at a lower concentration (10%–15% of total protein content) in oat as compared to gluten in wheat (80%–85%). The avenins in the genus Avena (cultivated oat as well as various wild species of which gene bank accessions were analyzed) are free of the known CD immunogenic epitopes from wheat, barley, and rye. T cells that recognize avenin-specific epitopes have been found very rarely in CD patients. CD patients that consume oats daily do not show significantly increased levels of intraepithelial lymphocyte (EIL) cells. The safety and the positive health effects of the long-term inclusion of oats in the gluten-free diet have been confirmed in long-term studies. Since 2009 (EC 41/2009) and 2013 (FDA) oat products may be sold as gluten-free in several countries provided a gluten contamination level below 20 ppm. Introduction of oats in the gluten-free diet of celiac patients is advised after the recovery of the intestine. Health effects of oat consumption are reflected in European Food Safety Authority (EFSA)- and Food and Drug Administration (FDA)-approved health claims. Oats can form a healthy, nutritious, fiber-rich, and safe complement to the gluten-free diet. Full article
(This article belongs to the Special Issue Genetics of Celiac Disease)
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