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基因与环境的相互作用 涉及菲律宾妇女面部裂风险
Zeynep Erdogan-Yildirim1, Jenna C Carlson2,3, Nandita Mukhopadhyay1
1Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Genes
|August 28, 2025
概括
这项研究探讨了菲律宾母亲口唇裂 (CL/P) 的基因与环境相互作用. 虽然没有发现显著的全基因组相互作用,但发现了母亲吸烟,维生素使用和CL/ P风险基因之间的联系.
科学领域:
- 遗传学
- 出生缺陷的研究
- 环境健康
背景情况:
- 孕产妇的暴露对具有或没有裂 palates (CL/P) 的单独裂唇的风险有显著影响.
- CL/P是一种常见的,高度遗传的先天性缺陷,具有复杂的多因素病因.
- 了解基因与环境的相互作用对于识别CL/P风险因素至关重要.
研究的目的:
- 通过全基因组基因环境相互作用 (GEI) 分析,确定CL/P的新遗传风险位.
- 调查菲律宾人口中母亲吸烟,维生素使用和CL/P风险之间的相互作用.
- 使用多种统计测试框架评估潜在的GEI影响.
主要方法:
- 对540例CL/ P病例和260例对照进行了全基因组基因环境相互作用 (GEI) 分析.
- 分析了母亲吸烟和维生素的使用.
- 应用了多种测试框架,包括1df GxE,3df联合测试和EDGE,以评估GEI影响.
主要成果:
- 对于CL/ P,没有发现全基因组显著的相互作用.
- 确定了11个与母亲吸烟和24个与维生素使用有关的暗示性GEI.
- 值得注意的吸烟相关基因包括FEZF1,TWIST2和NET1附近的基因;维生素相关基因包括CECR2和FURIN,可能会影响叶酸.
结论:
- 母体暴露在识别与CL/P等结构性出生缺陷相关的基因方面发挥着关键作用.
- 这些发现为探索CL/P的遗传基础提供了新的途径.
- 对特定基因与环境相互作用的进一步研究可以提高对CL/P病因的理解.
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