在东亚人口中的胎盘表达量化特征位点
Jaeyong Choi1, Seung Mi Lee2, Errol R Norwitz3
1Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea; Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea.
HGG advances
|February 4, 2024
概括
这项研究确定了108种新的胎盘表达定量特征位点 (eQTL) 变体,扩大了对这个重要器官基因调节的知识. 这些发现提高了对胎盘功能和相关疾病的理解.
科学领域:
- 基因组学就是基因组学.
- 人类遗传学 人类遗传学
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
背景情况:
- 表达量的特征位点 (eQTL) 分析将遗传变异与基因表达联系起来.
- 固体组织,特别是胎盘的eQTL研究较少被探索.
- 了解胎盘基因调节对于怀孕健康至关重要.
研究的目的:
- 在东亚人口的胎盘组织中进行eQTL分析.
- 识别人类胎盘中的新型基因调节机制和变异.
- 为了解胎盘功能和疾病做出贡献.
主要方法:
- 从剖腹产产中收集了102个胎盘样本.
- 进行mRNA测序 (NGS),并与来自母亲和带血的DNA数组进行比较.
- 利用张量QTL用于线性回归建模,精细映射和表观遗传学注释.
主要成果:
- 确定了2,703个具有显著eQTLs (FDR <0.05) 的编码基因.
- 在精细映射 (PIP>0.1) 后发现了108个以前未报告的eQTL变体.
- 在潜在的功能性胎盘调节区域发现了19%的新型变异,包括影响LGALS3表达的变异.
结论:
- 这项研究显著扩大了对人类胎盘中调节元素的知识.
- 确定了108个新的胎盘eQTL信号,现在可以在GMI eQTL数据库中获得.
- 需要进一步的研究来描述影响胎盘功能和疾病的遗传机制.
相关概念视频
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...