CDGEMM subject demographic data.

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.乳糜泻基因组、环境、微生物组与代谢组（Celiac Disease Genomic, Environmental, Microbiome and Metabolomic, CDGEMM）研究是一项针对乳糜泻（Celiac Disease, CD）高风险儿童的国际前瞻性出生队列研究。本研究采用多组学策略，旨在预测高风险个体的乳糜泻发病情况。受试者需拥有经活检确诊乳糜泻的一级亲属，且必须在添加辅食前完成入组。参与本研究需在五年内纵向采集血液与粪便样本，并填写关于受试者自身、其家庭及所处环境的调查问卷。研究的招募与数据采集工作自2014年起持续开展。截至2022年，本研究共纳入554名受试者，队列平均年龄为56.4个月。其中54名受试者的乳糜泻抗体检测呈阳性，31名已确诊乳糜泻。在这54名乳糜泻患者中，约80%在3岁前发病。截至目前，本研究已鉴定出多种在乳糜泻发病前丰度升高的微生物菌株、代谢通路与代谢产物，此类物质此前已被证实与自身免疫及炎症性疾病相关；同时还发现了一批在发病前丰度降低的物质，这类物质已知具有抗炎作用。当前本研究的后续分析工作包括：拓展宏基因组与代谢组学分析范围，评估与乳糜泻发病相关的环境风险因素，以及开展机制研究以探究微生物组与代谢产物的改变如何影响乳糜泻的发生或发挥保护作用。