基因与环境的相互作用,涉及菲律宾人的孕产妇暴露与面部裂风险
medRxiv : the preprint server for health sciences
|January 20, 2025
概括
这项研究探讨了与或没有裂 palates (CL/P) 的隔离裂唇的基因环境相互作用. 虽然没有出现全基因组显著发现,但发现了与母亲吸烟和维生素使用的暗示性相互作用,为这种常见的出生缺陷提供了新的遗传见解.
科学领域:
- 遗传学 是一个遗传学.
- 出生缺陷的研究研究研究.
- 环境健康 环境健康
背景情况:
- 孕产妇的暴露显著影响了与或没有裂 palates (CL/P) 的隔离裂唇的风险.
- CL/P是一种常见的,高度遗传的出生缺陷,具有复杂的多因素病因.
- 识别与环境因素相互作用的遗传位置对于理解CL/P发育至关重要.
研究的目的:
- 通过全基因组基因环境相互作用 (GEI) 分析,识别新的CL/P风险位置.
- 研究遗传变异与母亲吸烟和维生素使用之间的相互作用效应.
- 用多个统计测试框架评估潜在的GEI影响.
主要方法:
- 全基因组基因环境相互作用 (GEI) 分析在菲律宾的540例病例和260例对照样本上进行.
- 遗传变异与母亲吸烟和维生素使用的综合相互作用效应.
- 使用多个测试框架:1度自由度 (1df) GxE测试,3df联合测试和两步EDGE方法.
主要成果:
- 没有检测到全基因组显著相互作用.
- 在所有框架中确定了12个暗示吸烟的GEI和25个暗示维生素使用的GEI.
- 在FEZF1,TWIST2和NET1基因附近与吸烟相关的显著相互作用;在CECR2和FURIN附近与维生素相关的相互作用.
结论:
- 这些发现强调了母体暴露在识别与CL/P相关的基因方面的重要性.
- 暗示性相互作用突出显示了潜在的生物学途径,包括上皮细胞-介质细胞过渡和叶酸影响的过程.
- 为探索CL/P的遗传基础提供了新的途径.
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