Chen Kuan-Ru, Chu Shih-Kai, Kuo Pao-Lin
Department of Medical Research, E-DA Hospital, I-Shou University, Kaohsiung, Taiwan.
Department of Statistics, National Taipei University, New Taipei City, Taiwan.
Front Med (Lausanne). 2025 Jun 23;12:1580877. doi: 10.3389/fmed.2025.1580877. eCollection 2025.
Biological barriers are essential for maintaining integrity and function and preventing microbial invasion. Maternal barrier dysfunction may play a role in preterm birth (PTB). However, the link between maternal barrier function and PTB is still unknown. This study aims to identify genetic evidence supporting the role of maternal barrier genes in PTB risk.
We examined 201 barrier-related genes to assess their association with PTB susceptibility. We utilized the FinnGen study, published literature's whole-genome sequencing (WGS) summary statistics and Early Growth Genetics (EGG) meta-analysis to identify the maternal barrier gene associated with PTB.
Findings from the analysis of the maternal genome highlighted several barrier genes (, and ) associated with PTB. Notably, was supported by at least two independent genomic datasets.
The established roles of in vascular barrier function, angiogenesis, decidualization, intestinal epithelial barrier, and inflammation support its mechanistic involvement. Our research enhances our understanding of maternal barrier genes linked to PTB, providing valuable insights for future prevention and intervention strategies.
生物屏障对于维持完整性和功能以及防止微生物入侵至关重要。母体屏障功能障碍可能在早产(PTB)中起作用。然而,母体屏障功能与PTB之间的联系仍不清楚。本研究旨在确定支持母体屏障基因在PTB风险中作用的遗传证据。
我们检查了201个与屏障相关的基因,以评估它们与PTB易感性的关联。我们利用芬兰基因组研究、已发表文献的全基因组测序(WGS)汇总统计数据和早期生长遗传学(EGG)荟萃分析来确定与PTB相关的母体屏障基因。
对母体基因组的分析结果突出了几个与PTB相关的屏障基因(、和)。值得注意的是,至少有两个独立的基因组数据集支持。
在血管屏障功能、血管生成、蜕膜化、肠上皮屏障和炎症中的既定作用支持其机制参与。我们的研究增进了我们对与PTB相关的母体屏障基因的理解,为未来的预防和干预策略提供了有价值的见解。