ORIGINAL RESEARCH article
Front. Med.
Sec. Obstetrics and Gynecology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1580877
Barrier genes are associations with preterm birth
Provisionally accepted
- 1E-Da Hospital, I-Shou University, Kaohsiung, Taiwan
- 2National Taipei University, Taipei, Taiwan
- 3National Cheng Kung University Hospital, Tainan, Taiwan
- 4Jen-Ai Hospital, Taichung, Taiwan
- 5Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan
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Background: 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. Methods: 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 EGG meta-analysis to identify the maternal barrier gene associated with PTB. Results: Findings from the analysis of the maternal genome highlighted several barrier genes (NOTCH1, LAMA4, F11R, MAGI1, MAGI2, TJP1, PARD3, CLDN10, CLDN14, CLDN15, GRHL3, CGNL1, LAMB2, RHOA, and LRP5) associated with PTB. Notably, NOTCH1 was supported by at least two independent genomic datasets. Conclusion: The established roles of NOTCH1 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.
Keywords: Preterm Birth, NOTCH1, maternal barrier genes, genome-wide association studies, Genetic variant
Received: 21 Feb 2025; Accepted: 03 Jun 2025.
Copyright: © 2025 Chen, Chu and Kuo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Pao-Lin Kuo, National Cheng Kung University Hospital, Tainan, Taiwan
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