The genetics of celiac disease: A comprehensive review of clinical implications

Dieli-Crimi, Romina; Cénit, M C; Núñez, Concepción

doi:10.1016/j.jaut.2015.07.003

Cited by 127 publications

(101 citation statements)

References 180 publications

(135 reference statements)

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“…2 In spite of this generalized exposure to dietary gluten of the population, not all the individuals carrying the HLA-DQ risk genotype finally develop CD, which means that additional genetic and environmental factors are needed to trigger disease onset. 3 , 4 …”

Section: Introductionmentioning

confidence: 99%

Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL study

et al. 2018

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Celiac disease (CD) is an immune-mediated enteropathy involving genetic and environmental factors, whose interaction influences disease risk. The intestinal microbiota, including viruses and bacteria, could play a role in the pathological process leading to gluten intolerance. In this study, we investigated the prevalence of pathogens in the intestinal microbiota of infants at familial risk of developing CD. We included 127 full-term newborns with at least one first-degree relative with CD. Infants were classified according to milk-feeding practice (breastfeeding or formula feeding) and HLA-DQ genotype (low, intermediate or high genetic risk). The prevalence of pathogenic bacteria and viruses was assessed in the faeces of the infants at 7 days, 1 month and 4 months of age. The prevalence of Clostridium perfringens was higher in formula-fed infants than in breast-fed over the study period, and that of C. difficile at 4 months. Among breastfed infants, a higher prevalence of enterotoxigenic E. coli (ETEC) was found in infants with the highest genetic risk compared either to those with a low or intermediate risk. Among formula-fed infants, a higher prevalence of ETEC was also found in infants with a high genetic risk compared to those of intermediate risk. Our results show that specific factors, such as formula feeding and the HLA-DQ2 genotype, previously linked to a higher risk of developing CD, influence the presence of pathogenic bacteria differently in the intestinal microbiota in early life. Further studies are warranted to establish whether these associations are related to CD onset later in life.

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Section: Introductionmentioning

confidence: 99%

Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL study

et al. 2018

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“…The total genetic variation is estimated to explain up to 48% of CD heritability [31]. Regulatory mechanisms of CD development may also be modulated by epigenetics and microbiota [6,35].…”

Section: Discussionmentioning

confidence: 99%

“…While the influence of some of these environmental factors is being clarified or is still a question of debate [4,5], the relevance of the risk alleles of the Human Leukocyte Antigen (HLA)-DQ2 and HLA-DQ8 for the development of CD is well established: Over 90% of CD patients carry the alleles encoding HLA-DQ2 molecule; most of the remaining CD patients carry the HLA-DQ8 heterodimers. However, although around 25% of the European general population is positive for the HLA-DQ2 heterodimer (and ~50% if HLA-DQ8 is also included), only a small fraction (~1%) will develop CD [6][7][8]. This indicates that the HLA-DQ2 and/or HLA-DQ8 risk alleles are necessary but not sufficient for the development of the disease [3].…”

Section: Introductionmentioning

confidence: 99%

“…So far, only few studies investigated the differences in metabolic profiles between CD patients and healthy controls [13], and even fewer studies focused on the serum metabolic profile. The results of those studies, however, 6 are quite promising revealing alterations in energy metabolism [14] and suggesting that metabolic alterations may precede the development of small intestinal villous atrophy [15].…”

Section: Introductionmentioning

confidence: 99%

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Investigating the early metabolic fingerprint of celiac disease – a prospective approach

Kirchberg

Werkstetter

Uhl

et al. 2016

Journal of Autoimmunity

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“…During the years, non-dietary treatments were investigated but the results were discouraging (Sollid 2011, Plugis 2015, Dielli-Crimi 2015. GFD meant initially abstention from wheat, barley, rye and oats.…”

Section: Treatment Gfd: Now and Then-oatsmentioning

confidence: 99%

Demographics, clinical features and treatment of pediatric celiac disease

Tapsas¹

2015

Linköping University Medical Dissertations

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Celiac disease (CD) is a chronic small intestinal immune-mediated enteropathy triggered by ingestion of gluten-containing food in genetically predisposed subjects. The enteropathy is presented with a wide variety of clinical manifestations, which can occur even outside the gastrointestinal tract. In the majority of cases, the diagnosis of CD is based on a small intestinal biopsy showing mucosal alterations, i.e. intraepithelial lymphocytosis, crypt hyperplasia, and villous atrophy. The treatment, gluten-free diet (GFD), has recently been revised with the addition of gluten-free oats. Oats give a more diversified nutrition and increase the fibre content. The use of oats in CD is though still debated in some reports. A strict life-long adherence to the GFD can be problematic, especially for pediatric CD patients. Sweden reported of one of the highest observed CD prevalences worldwide, i.e. 3%, among 12-year-olds born during what has been described as "the Swedish celiac epidemic", 1984−1996.The aims of this thesis were to elucidate how pediatric CD has changed during a 41-year period in Sweden, i.e. 1973Sweden, i.e. −2013, in terms of clinical presentation, disease severity, incidence, and demographics. We also wanted to adress the compliance to the GFD, the use of oats in the GFD and the safety of oats inclusion in the diet by measuring urinary nitric oxide (NO) metabolites.Filed information provided data about 2856 pediatric patients investigated for suspected CD between 1973 and 2013; of which 1030 patients were diagnosed with CD. After the data analyses the mean age of CD patients was shown to increase after the celiac epidemic period.Currently, CD shows a less severe picture in terms of symptoms and intestinal pathology.Younger children suffer primarily from gastrointestinal symptoms and growth failure, whereas extra-intestinal manifestations are more often displayed among adolescents. viWe also reported an unusually high pediatric CD incidence rate and cumulative incidence, likely the highest reported worldwide. We hypothesised that the introduction of new antibody tests would affect the diagnostic activity and accuracy in performing small intestinal biopsies for CD investigation. However, the outcome of diagnostic activity and accuracy could not clearly be attributed to the use of antibody tests due to changes occurring in parallel during the 41-year study period, e.g. a different pattern of symptoms at presentation and improved knowledge of the disease among parents and health professionals.In a questionnaire-based study our patient group reported a high compliance to the GFD.Long duration of the GFD may, however, influence compliance negatively. Oats have been included to the GFD of our study population in most of the cases without reporting major complications related to their well-being.The urinary measurements of NO metabolites revealed two patient groups, one with high and one with low levels. The two populations did not differ regarding sex, age, compliance to the GFD or oats consumption. Fa...

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The genetics of celiac disease: A comprehensive review of clinical implications

Cited by 127 publications

References 180 publications

Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL study

Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL study

Investigating the early metabolic fingerprint of celiac disease – a prospective approach

Demographics, clinical features and treatment of pediatric celiac disease

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