调查细胞衰老相关基因在孕前的因果作用:一个多omics门德尔随机化研究与差异表达分析
1Obstetrics & Gynecology Hospital of Fudan University, Shanghai Key Lab of Reproduction and Development, Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai, China.
Frontiers in endocrinology
|November 12, 2025
概括
细胞衰老基因与孕前有关. 这项研究使用孟德尔随机化来识别关键基因,发现ATG16L1,PMVK,MAP3K14,NSUN2和CDC25A可能在孕前的发展中发挥作用.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 生殖医学 生殖医学
背景情况:
- 细胞衰老在妊娠前病原发生的确切作用尚不清楚.
- 识别参与妊娠前的关键衰老相关基因对于了解疾病机制至关重要.
研究的目的:
- 使用孟德尔随机化 (MR) 框架,系统地优先考虑与衰老相关的基因,这些基因可能导致妊娠前.
- 调查与衰老相关的基因和子宫前之间的因果关系.
主要方法:
- 综合性全基因组关联研究 (GWAS) 预孕与表达,甲基化和蛋白质定量特征位点 (QTL) 数据对866个与衰老相关的基因.
- 采用基于总结数据的门德尔随机化 (SMR) 和HEIDI测试来评估因果关系和变性.
- 利用同位素分析和独立的GWAS队列复制,补充了胎盘组织中的RT-PCR.
主要成果:
- 优先考虑12个表达QTLs (eQTLs),62个甲基化QTLs (mQTLs) 和2个蛋白质QTLs (pQTLs) 与妊娠前相关.
- 甲基化调节表达分析涉及ATG16L1,PMVK和MAP3K14.
- 通过RT-PCR检测,在产卵前的胎盘组织中发现了ATG16L1,PMVK,MAP3K14,NSUN2和CDC25A的差异性表达.
结论:
- 包括ATG16L1,PMVK,MAP3K14,NSUN2和CDC25A在内的关键基因,在细胞衰老和孕前之间建立了联系.
- 这些发现为机理学研究提供了有价值的假设,以及在产前症中潜在的治疗向.
更多相关视频
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
9.0K
09:59Isolation of Murine Retinal Endothelial Cells for Next-Generation Sequencing
Published on: October 11, 2021
3.7K
相关概念视频
Nondisjunction
4.8K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
4.8K
Meiosis I
43.7K
Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
43.7K
Epistasis Analysis
5.6K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.6K
Interactions Between Signaling Pathways
7.2K
Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
7.2K
