EoE Module 1 References-Jensen et al JACI 2018 Early life environment exposures interact with genetic susceptibility variants in pediatric patients with EoE

Jensen et al JACI 2018 Early life environment exposures interact with genetic susceptibility variants in pediatric patients with EoE

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### Summary<br /><br />The study explores the interaction between genetic susceptibility and early life environmental exposures in pediatric eosinophilic esophagitis (EoE). EoE, marked by a rapid increase in incidence, is linked not only to genetic variants but also to environmental factors. Researchers conducted a case-control study analyzing five EoE-associated gene variants (TSLP, LOC283710/KLF13, CAPN14, CCL26, TGF-β) and several early life factors (antibiotic use, cesarean delivery, breastfeeding, NICU admission, absence of pets).<br /><br />**Key Findings:**<br /><br />1. **Gene-Environment Interaction**:<br />   - Significant interactions were found between breastfeeding and the rs6736278 variant within CAPN14, and NICU admission and the rs17815905 variant within the LOC283710/KLF13 region.<br />   - Breastfeeding reduced the risk of EoE in individuals with the rs6736278 genetic variant, showing a 92% decrease in risk.<br />   - NICU admission increased EoE risk in those without the rs17815905 variant.<br /><br />2. **Methodology**:<br />   - Case-only interaction tests and case-control analyses were used to assess the combined and independent effects of genetic variants and environmental factors.<br />   - DNA samples were genotyped, and early life factors were assessed through a detailed maternal questionnaire.<br /><br />3. **Implications**:<br />   - The study suggests that modifying certain early life environmental factors, like promoting breastfeeding, could potentially reduce the risk of EoE in genetically susceptible children.<br />   - The results hint at the complex interplay of genetics and environment in EoE development and suggest future research directions into the microbiome and gene-environment interactions.<br /><br />**Research Significance**:<br />This study pioneers the exploration of gene-environment interactions in EoE, laying groundwork for potential interventions targeting modifiable risks to manage and prevent EoE in pediatric populations. However, further research and replication of findings are needed for conclusive evidence and mechanistic insights.

Keywords

genetic susceptibility

environmental exposures

pediatric eosinophilic esophagitis

gene-environment interaction

CAPN14

LOC283710/KLF13

breastfeeding

NICU admission

case-control study

early life factors