Barrier genes are associated with preterm birth
BackgroundBiological 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...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1580877/full |
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| author | Kuan-Ru Chen Shih-Kai Chu Pao-Lin Kuo Pao-Lin Kuo Pao-Lin Kuo |
| author_facet | Kuan-Ru Chen Shih-Kai Chu Pao-Lin Kuo Pao-Lin Kuo Pao-Lin Kuo |
| author_sort | Kuan-Ru Chen |
| collection | DOAJ |
| description | BackgroundBiological 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.MethodsWe 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.ResultsFindings 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.ConclusionThe 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. |
| format | Article |
| id | doaj-art-a3a57b70af814547befa294de36e5530 |
| institution | OA Journals |
| issn | 2296-858X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj-art-a3a57b70af814547befa294de36e55302025-08-20T02:36:53ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-06-011210.3389/fmed.2025.15808771580877Barrier genes are associated with preterm birthKuan-Ru Chen0Shih-Kai Chu1Pao-Lin Kuo2Pao-Lin Kuo3Pao-Lin Kuo4Department of Medical Research, E-DA Hospital, I-Shou University, Kaohsiung, TaiwanDepartment of Statistics, National Taipei University, New Taipei City, TaiwanDepartment of Obstetrics and Gynecology, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanDepartment of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, TaiwanDepartment of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, TaiwanBackgroundBiological 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.MethodsWe 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.ResultsFindings 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.ConclusionThe 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.https://www.frontiersin.org/articles/10.3389/fmed.2025.1580877/fullpreterm birthNOTCH1maternal barrier genesgenome-wide association studiesgenetic variant |
| spellingShingle | Kuan-Ru Chen Shih-Kai Chu Pao-Lin Kuo Pao-Lin Kuo Pao-Lin Kuo Barrier genes are associated with preterm birth Frontiers in Medicine preterm birth NOTCH1 maternal barrier genes genome-wide association studies genetic variant |
| title | Barrier genes are associated with preterm birth |
| title_full | Barrier genes are associated with preterm birth |
| title_fullStr | Barrier genes are associated with preterm birth |
| title_full_unstemmed | Barrier genes are associated with preterm birth |
| title_short | Barrier genes are associated with preterm birth |
| title_sort | barrier genes are associated with preterm birth |
| topic | preterm birth NOTCH1 maternal barrier genes genome-wide association studies genetic variant |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2025.1580877/full |
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