ArticleProceedings of the National Academy of Sciences of the United States of America2019
Genomic and molecular characterization of preterm birth.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Cervical pessary to prevent preterm birth in asymptomatic high-risk women: a systematic review and meta-analysis.American journal of obstetrics and gynecology · 2020Pooled it
- Stress During Pregnancy and Epigenetic Modifications to Offspring DNA: A Systematic Review of Associations and Implications for Preterm Birth.The Journal of perinatal & neonatal nursingPooled it
- Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes.Scientific reports · 2021Trial
- Machine learning-based prediction of preterm birth risk using methylation changes in neonatal cord blood CpG sites.BMC pregnancy and childbirth · 2025Article
- Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans.Scientific reports · 2025Article
- Preterm Birth in African American Women: A Multi-Omic Pilot Study in Early Pregnancy.Biological research for nursing · 2025Article
- Exploring Differentially Methylated Genes among Preterm Birth and Full-Term Birth.Lifestyle genomics · 2025Article
- A methylome-wide association study of major depression with out-of-sample case-control classification and trans-ancestry comparison.Nature. Mental health · 2025Article
- Barrier genes are associated with preterm birth.Frontiers in medicine · 2025Article
- Social determinants of participation in genetic research among Puerto Ricans and in the Puerto Rican diaspora.Social science & medicine (1982) · 2024Article
- Extrauterine support of pre-term lambs achieves similar transcriptomic profiling to late pre-term lamb brains.Scientific reports · 2024Article
- Epigenetic Responses to Nonchemical Stressors: Potential Molecular Links to Perinatal Health Outcomes.Current environmental health reports · 2024Review
- Review
- Review
- Metabolomic analysis of the human placenta reveals perturbations in amino acids, purine metabolites, and small organic acids in spontaneous preterm birth.EXCLI journal · 2024Article
- Data-driven insights can transform women's reproductive health.npj women's health · 2024Review
- The Role of Genetics in Preterm Birth.Reproductive sciences (Thousand Oaks, Calif.) · 2023Review
- Identification of novel cell-free RNAs in maternal plasma as preterm biomarkers in combination with placental RNA profiles.Journal of translational medicine · 2023Article
- Ultra-low-coverage genome-wide association study-insights into gestational age using 17,844 embryo samples with preimplantation genetic testing.Genome medicine · 2023Article
- Placental transcriptomic signatures of spontaneous preterm birth.American journal of obstetrics and gynecology · 2023Article
Corrections and comments
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Authors and funding
31 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preterm birth (PTB) complications are the leading cause of long-term morbidity and mortality in children. By using whole blood samples, we integrated whole-genome sequencing (WGS), RNA sequencing (RNA-seq), and DNA methylation data for 270 PTB and 521 control families. We analyzed this combined dataset to identify genomic variants associated with PTB and secondary analyses to identify variants associated with very early PTB (VEPTB) as well as other subcategories of disease that may contribute to PTB. We identified differentially expressed genes (DEGs) and methylated genomic loci and performed expression and methylation quantitative trait loci analyses to link genomic variants to these expression and methylation changes. We performed enrichment tests to identify overlaps between new and known PTB candidate gene systems. We identified 160 significant genomic variants associated with PTB-related phenotypes. The most significant variants, DEGs, and differentially methylated loci were associated with VEPTB. Integration of all data types identified a set of 72 candidate biomarker genes for VEPTB, encompassing genes and those previously associated with PTB. Notably, PTB-associated genes RAB31 and RBPJ were identified by all three data types (WGS, RNA-seq, and methylation). Pathways associated with VEPTB include EGFR and prolactin signaling pathways, inflammation- and immunity-related pathways, chemokine signaling, IFN-γ signaling, and Notch1 signaling. Progress in identifying molecular components of a complex disease is aided by integrated analyses of multiple molecular data types and clinical data. With these data, and by stratifying PTB by subphenotype, we have identified associations between VEPTB and the underlying biology.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.