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Updated: May 13, 2025

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一种用于发现母体和胎儿变异的表观效应的方法

Michael Nodzenski¹, Min Shi¹, David M Umbach¹

¹Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC, United States.

Frontiers in genetics

|April 15, 2025

概括

这项研究扩展了GADGETS,以确定孕妇和胎儿单核酸多态 (SNP) 之间的遗传相互作用,以解决怀孕并发症. 改进方法成功指定了与面部裂纹风险相关的SNP集.

科学领域:

遗传学是一个遗传学.
生殖生物学生殖生物学
计算生物学计算生物学

背景情况:

怀孕涉及母亲和胎儿的"双基因组",其中遗传变异可以相互作用,影响怀孕结果和后代的健康.
由于搜索空间很大,在单核酸多态体 (SNP) 之间发现表观相互作用 (基因-基因相互作用) 是具有挑战性的.
像GADGETS这样的先前方法专注于后代SNP,限制了表观分析的范围.

研究的目的:

扩展使用三合体或兄弟姐妹 (GADGETS) 检测遗传表现症的遗传算法,以纳入母亲的SNP.
提名一组SNP,包括来自母亲和胎儿的SNP,这些SNP表现出表皮性相互作用.
通过考虑母胎遗传相互作用来改善对妊娠并发症遗传风险因素的识别.

主要方法:

开发了一个扩展的GADGETS算法,将母性SNP与后代SNP结合起来.
使用case-complement-sibling和mother-father对,利用孟德尔传递和交配对称假设.
采用换程序来优先考虑真正的表皮性SNP集而不是非表皮性风险因素.

主要成果:

模拟显示了GADGETS在检测模拟的3-5 SNP表效应方面取得的成功.
扩展的GADGETS在检测相互作用和处理较大的SNP集方面超过了其他表达式挖掘算法 (MDR-PDT,TrioFS,EPISFA-LD).
应用到现实世界的数据 (dbGaP),GADGETS确定了多SNP母胎组作为 orofacial裂变的潜在风险因素.

结论:

扩展的GADGETS有效地挖掘了涉及母亲SNP的表现.
这种方法通过考虑母胎遗传相互作用,提高了发现妊娠并发症复杂遗传贡献的能力.
这些发现表明,这是一条新的途径,用于识别对不良妊娠结果的遗传倾向.

关键词:

案例-家长设计.史诗主义就是一种史诗主义.进化算法是一种进化算法.产妇对母亲的影响.口腔裂口腔裂是一个口腔裂.

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