Jingjing Bai, Dianne Gelien Bouwknegt, Rinse Karel Weersma, Gerard Dijkstra, Kimberley Wilhelmina Johanna van der Sloot, Eleonora Anna Margaretha Festen
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All eligible studies were graded using STREGA guideline.</p><p><strong>Results: </strong>Four thousand eight hundred thirty-three publications were identified and screened, resulting in 39 eligible studies, and 17 studies reported statistically significant interactions. NOD2-smoking interaction was most frequently investigated and showed variant-specific effect at rs2066847 regarding the risk of Crohn's disease. Gene-smoking interactions were further identified in other IBD risk genes (ATG16L1, IL23R, and CALM3), detoxification genes (GSTP1 and HMOX1), smoking-associated genes (CHRNA3, CHRNA5, PPP1R3C, and BDNF), and the inflammatory cytokine (IL1B) through a candidate gene approach. Immunochip-wide interaction analyses yielded 64 smoking interacting variants. Gene-diet interactions were observed across multiple nutritional measures, including fatty acid intake with CYP4F3 and FADS2, serum selenium with SEPHS1 and SEPSECS, potassium intake with IL21, alcohol consumption with IL12B, heme iron intake with FCGR2A, and serum vitamin D with VDR.</p><p><strong>Conclusions: </strong>Current evidence indicated that the IBD risk conferred by environmental factors can vary among the individuals carrying certain genetic variants. Further efforts, including genome wide environment interaction studies and genotype-based nutrition/lifestyle clinical trials, are needed to unravel the missing heritability influenced by environmental exposures and to construct personalized recommendations of lifestyle/dietary modification based on an individual genetic background.</p>","PeriodicalId":94074,"journal":{"name":"Journal of Crohn's & colitis","volume":"19 6","pages":""},"PeriodicalIF":8.7000,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12134891/pdf/","citationCount":"0","resultStr":"{\"title\":\"Gene-Environment Interactions in Inflammatory Bowel Disease: A Systematic Review of Human Epidemiologic Studies.\",\"authors\":\"Jingjing Bai, Dianne Gelien Bouwknegt, Rinse Karel Weersma, Gerard Dijkstra, Kimberley Wilhelmina Johanna van der Sloot, Eleonora Anna Margaretha Festen\",\"doi\":\"10.1093/ecco-jcc/jjaf061\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background and aims: </strong>Complex gene-environment interaction (GXE) for inflammatory bowel disease (IBD) remains elusive. 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Gene-smoking interactions were further identified in other IBD risk genes (ATG16L1, IL23R, and CALM3), detoxification genes (GSTP1 and HMOX1), smoking-associated genes (CHRNA3, CHRNA5, PPP1R3C, and BDNF), and the inflammatory cytokine (IL1B) through a candidate gene approach. Immunochip-wide interaction analyses yielded 64 smoking interacting variants. Gene-diet interactions were observed across multiple nutritional measures, including fatty acid intake with CYP4F3 and FADS2, serum selenium with SEPHS1 and SEPSECS, potassium intake with IL21, alcohol consumption with IL12B, heme iron intake with FCGR2A, and serum vitamin D with VDR.</p><p><strong>Conclusions: </strong>Current evidence indicated that the IBD risk conferred by environmental factors can vary among the individuals carrying certain genetic variants. 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引用次数: 0
摘要
背景和目的：炎症性肠病（IBD）的复杂基因-环境相互作用（GXE）仍然是未知的。本系统综述旨在总结目前IBD中GXE的证据。方法：系统检索PubMed、EMBASE、Web of Science和Scopus数据库，从数据库建立到2024年4月30日，检索研究遗传变异和环境因素在IBD中相互作用影响的出版物。所有符合条件的研究使用STREGA指南进行评分。结果：44833份出版物被识别和筛选，产生39项符合条件的研究，17项研究报告了统计上显著的相互作用。nod2 -吸烟的相互作用是最常被研究的，并且在rs2066847位点显示出与克罗恩病风险相关的变异特异性效应。通过候选基因方法，进一步确定了其他IBD危险基因（ATG16L1、IL23R和CALM3）、解毒基因（GSTP1和HMOX1）、吸烟相关基因（CHRNA3、CHRNA5、PPP1R3C和BDNF）和炎症细胞因子（IL1B）中基因与吸烟的相互作用。免疫芯片范围内的相互作用分析产生了64种吸烟相互作用变异。通过多种营养指标观察基因与饮食的相互作用，包括脂肪酸摄入量与CYP4F3和FADS2，血清硒摄入量与SEPHS1和SEPSECS，钾摄入量与IL21，酒精摄入量与IL12B，血红素铁摄入量与FCGR2A，血清维生素D与VDR。结论：目前的证据表明，环境因素导致的IBD风险在携带某些遗传变异的个体之间可能有所不同。需要进一步努力，包括全基因组环境相互作用研究和基于基因型的营养/生活方式临床试验，以揭示受环境暴露影响的缺失遗传性，并根据个人遗传背景构建个性化的生活方式/饮食改变建议。
Gene-Environment Interactions in Inflammatory Bowel Disease: A Systematic Review of Human Epidemiologic Studies.
Background and aims: Complex gene-environment interaction (GXE) for inflammatory bowel disease (IBD) remains elusive. This systematic review aims to summarize the current evidence of GXE in IBD.
Methods: PubMed, EMBASE, Web of Science, and Scopus were systematically searched from inception through April 30, 2024, to identify publications examining the interaction effect of genetic variants and environmental factors in IBD. All eligible studies were graded using STREGA guideline.
Results: Four thousand eight hundred thirty-three publications were identified and screened, resulting in 39 eligible studies, and 17 studies reported statistically significant interactions. NOD2-smoking interaction was most frequently investigated and showed variant-specific effect at rs2066847 regarding the risk of Crohn's disease. Gene-smoking interactions were further identified in other IBD risk genes (ATG16L1, IL23R, and CALM3), detoxification genes (GSTP1 and HMOX1), smoking-associated genes (CHRNA3, CHRNA5, PPP1R3C, and BDNF), and the inflammatory cytokine (IL1B) through a candidate gene approach. Immunochip-wide interaction analyses yielded 64 smoking interacting variants. Gene-diet interactions were observed across multiple nutritional measures, including fatty acid intake with CYP4F3 and FADS2, serum selenium with SEPHS1 and SEPSECS, potassium intake with IL21, alcohol consumption with IL12B, heme iron intake with FCGR2A, and serum vitamin D with VDR.
Conclusions: Current evidence indicated that the IBD risk conferred by environmental factors can vary among the individuals carrying certain genetic variants. Further efforts, including genome wide environment interaction studies and genotype-based nutrition/lifestyle clinical trials, are needed to unravel the missing heritability influenced by environmental exposures and to construct personalized recommendations of lifestyle/dietary modification based on an individual genetic background.
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