检测母亲-父亲遗传相互作用对不育风险影响的统计方法:全基因组的方法
Siri N Skodvin1,2, Håkon K Gjessing1,2, Astanand Jugessur1,2
1Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.
Genetic epidemiology
|August 28, 2023
概括
父母基因型相互作用可能会导致不孕症,这是一个复杂的疾病. 这项研究模拟了这些等位基因相互作用,在DNAH17等基因中发现了近乎显著的效应,这表明了不孕症研究的新途径.
科学领域:
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
- 人类人口研究 人类人口研究
背景情况:
- 不孕症影响许多夫妇,在许多情况下原因不明.
- 父母基因型相互作用是不充分研究的不孕症风险假设.
- 辅助生殖技术 (ART) 可以作为遗传研究中不孕症的代理.
研究的目的:
- 调查和模拟影响不孕症风险的父母基因型之间的等位基因相互作用.
- 选在同一位置的母系和父系等位基因之间的全基因组相互作用效应.
- 为研究涉及父母等位基相互作用的表型而适应相互作用模型.
主要方法:
- 利用挪威母亲,父亲和儿童队列研究中的15789例怀孕的基因型数据.
- 在1304个怀孕中,接受治疗的ART使用作为不孕症的代理.
- 实施并比较了用于全基因组相互作用效应查的不同参数化.
主要成果:
- 在与不孕症表型相关的基因中确定了接近显著的相互作用效应.
- 特别注意到Dynein轴突重链17 (DNAH17) 的影响,这是一种与男性不孕症相关的基因.
- 证明不同的模型参数化在全基因组规模上产生了可比结果.
结论:
- 父母等位基相互作用是不孕不育异质性的潜在因素.
- 开发的相互作用模型可以适应研究其他复杂的表型.
- 这种方法为了解不孕不育的遗传基础提供了一个新的视角.
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