Cohort profile: Celiac disease genomic, environmental, microbiome and metabolome study; a prospective longitudinal birth cohort study of children at-risk for celiac disease

Abstract

The Celiac Disease Genomic, Environmental, Microbiome and Metabolomic (CDGEMM) study is an international prospective birth cohort in children at-risk of developing celiac disease (CD). The CDGEMM study has been designed to take a multi-omic approach to predicting CD onset in at-risk individuals. Participants are required to have a first-degree family member with biopsy diagnosed CD and must be enrolled prior to the introduction of solid food. Participation involves providing blood and stool samples longitudinally over a period of five years as well as answering questionnaires related to the participant, their family, and environment. Recruitment and data collection have been ongoing since 2014. As of 2022 we have a total of 554 participants and the average age of the cohort is 56.4 months. A total of 54 participants have developed positive antibodies for CD and 31 have confirmed CD. Approximately 80% of the 54 participants with CD have developed it by 3 years of age. To date we have identified several microbial strains, pathways, and metabolites occurring in increased abundance and detected before CD onset, which have previously been linked to autoimmune and inflammatory conditions while others occurred in decreased abundance before CD onset and are known to have anti-inflammatory effects. Our ongoing analysis includes expanding our metagenomic and metabolomic analyses, evaluating environmental risk factors linked to CD onset, and mechanistic studies investigating how alterations in the microbiome and metabolites may protect against or contribute to CD development.

Metabolomics and lipidomics signature in celiac disease: a narrative review

“…It involves collecting longitudinal blood and stool samples, along with questionnaires, from participants over a five-year period. Initial findings show the presence of specific microbial strains and metabolites associated with autoimmune and inflammatory conditions before the development of celiac disease, while other beneficial components decrease [ 50 ]. Another study on 102 children in the CDGEMM study from 2014–2022 aimed to investigate whether there are changes in intestinal permeability before the onset of celiac disease autoimmunity (CDA) in at-risk children.…”

Celiac Disease on the Bed-Side: Embedding Case Finding and Screening in Hospitalized Children

“…A remarkable increase in the diagnosed cases of CD has been registered in recent decades, partly due to the development of serological diagnostic tests, partly to possible environmental changes such as variations in the quantity and quality of ingested gluten and infant nutrition influencing disease onset [8,12,13].…”

The Contribution of the Intestinal Microbiota to the Celiac Disease Pathogenesis along with the Effectiveness of Probiotic Therapy

“…A feature of the intestinal lesion is the reversible atrophy of its villi and hyperplasia of crypts with the exclusion of a trigger agent. The prevalence of celiac disease according to various data ranges from 1:100 to 1:300 in the world; the ratio of women to men is 2:1 and it is higher in children than in adults (0.9% versus 0.5%) [28][29][30][31][32]. Celiac disease is more common in girls and can occur after eating gluten-containing foods at any age, including infancy [33].…”