Blood gene transcript signature profiling in pregnancies resulting in preterm birth: A systematic review

Brummaier, Tobias; Kabeer, Basirudeen Syed Ahamed; Chaussabel, Damien; Utzinger, Jürg; McGready, Rose; Paris, Daniel

doi:10.1016/j.eurox.2020.100118

Cited by 4 publications

(3 citation statements)

References 42 publications

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“…The study included 542 preterm and 568 term African American mothers, adjusted for multiple lifestyle-related confounders, and identified several SNPs significantly associated with PTB. Similar findings have been established within PTGS1 , PTGS2 , prostaglandin E receptor 2 ( PTGER2 ), and prostaglandin E receptor 3 ( PTGER3 ) genes in maternal samples and infant samples [ 49 , 69 , 81 , 123 ]. Polymorphisms within genes encoding growth factors involved in vasculogenesis, angiogenesis, endothelin, and endothelial growth have all been implicated in PTB [ 97 , 124 , 125 ].…”

Section: Preterm Birth Geneticssupporting

confidence: 74%

“…Employing these broad study designs, many approaches to investigate the genetics of PTB have been established including large intergenerational studies, twin studies, family-based linkage studies, candidate gene studies, genome-wide association studies (GWAS), whole-exome sequencing (WES) and whole genome sequencing (WGS) analyses, copy number variant (CNV) analyses, and mitochondrial genetic studies [ 47 , 48 ]. Research has also been conducted to explore gene-gene interactions, gene-environment interactions, epigenetics modifications, and transcriptomic changes associated with PTB [ 49 ]. Some studies have investigated the biological consequences of genetic polymorphisms by assessing the proteome and metabolome of PTB cases [ 50 , 51 ].…”

Section: Approaches To Investigate the Genetic Basis Of Preterm Birthmentioning

confidence: 99%

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The Role of Genetics in Preterm Birth

et al. 2023

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Preterm birth (PTB), defined as the birth of a child before 37 completed weeks gestation, affects approximately 11% of live births and is the leading cause of death in children under 5 years. PTB is a complex disease with multiple risk factors including genetic variation. Much research has aimed to establish the biological mechanisms underlying PTB often through identification of genetic markers for PTB risk. The objective of this review is to present a comprehensive and updated summary of the published data relating to the field of PTB genetics. A literature search in PubMed was conducted and English studies related to PTB genetics were included. Genetic studies have identified genes within inflammatory, immunological, tissue remodeling, endocrine, metabolic, and vascular pathways that may be involved in PTB. However, a substantial proportion of published data have been largely inconclusive and multiple studies had limited power to detect associations. On the contrary, a few large hypothesis-free approaches have identified and replicated multiple novel variants associated with PTB in different cohorts. Overall, attempts to predict PTB using single “-omics” datasets including genomic, transcriptomic, and epigenomic biomarkers have been mostly unsuccessful and have failed to translate to the clinical setting. Integration of data from multiple “-omics” datasets has yielded the most promising results.

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Section: Preterm Birth Geneticssupporting

confidence: 74%

Section: Approaches To Investigate the Genetic Basis Of Preterm Birthmentioning

confidence: 99%

The Role of Genetics in Preterm Birth

et al. 2023

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“…Recently the potential of machine learning in predicting gestational age has been demonstrated, with high degrees of correlation between actual and predicted weeks of gestation being reported. These findings underscore the importance of dynamic changes in maternal physiology over the course of pregnancy and the potential utility of omic profiles in understanding these changes and harnessing them for diagnostic and predictive purposes ( 8 – 10 ).…”

Section: Introductionmentioning

confidence: 78%

Design of a targeted blood transcriptional panel for monitoring immunological changes accompanying pregnancy

Brummaier,

Rinchai,

Toufiq

et al. 2024

Front. Immunol.

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BackgroundImmunomodulatory processes exert steering functions throughout pregnancy. Detecting diversions from this physiologic immune clock may help identify pregnant women at risk for pregnancy-associated complications. We present results from a data-driven selection process to develop a targeted panel of mRNAs that may prove effective in detecting pregnancies diverting from the norm.MethodsBased on a de novo dataset from a resource-constrained setting and a dataset from a resource-rich area readily available in the public domain, whole blood gene expression profiles of uneventful pregnancies were captured at multiple time points during pregnancy. BloodGen3, a fixed blood transcriptional module repertoire, was employed to analyze and visualize gene expression patterns in the two datasets. Differentially expressed genes were identified by comparing their abundance to non-pregnant postpartum controls. The selection process for a targeted gene panel considered (i) transcript abundance in whole blood; (ii) degree of correlation with the BloodGen3 module; and (iii) pregnancy biology.ResultsWe identified 176 transcripts that were complemented with eight housekeeping genes. Changes in transcript abundance were seen in the early stages of pregnancy and similar patterns were observed in both datasets. Functional gene annotation suggested significant changes in the lymphoid, prostaglandin and inflammation-associated compartments, when compared to the postpartum controls.ConclusionThe gene panel presented here holds promise for the development of predictive, targeted, transcriptional profiling assays. Such assays might become useful for monitoring of pregnant women, specifically to detect potential adverse events early. Prospective validation of this targeted assay, in-depth investigation of functional annotations of differentially expressed genes, and assessment of common pregnancy-associated complications with the aim to identify these early in pregnancy to improve pregnancy outcomes are the next steps.

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Molecular profiling unveils pyroptosis markers in preterm birth

Li,

Huang,

Bai

et al. 2024

The FASEB Journal

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Through a comprehensive examination of pyroptosis‐related differential expressed genes (PRDEGs), this work investigates the molecular complexities of spontaneous preterm birth (SPTB), also known as premature delivery, before the due date. Through the process of merging and correcting batch effects in the GSE120480 and GSE73714 datasets, we were able to identify 36 PRDEGs that exhibited significant expression differentiation in SPTB. Through functional enrichment and pathway analysis, their importance in amino acid transport and cytokine receptor interaction has been highlighted. Among the genes that have emerged as crucial, CEBPA, APOA1, and CEP55 have been identified. The relevance of these molecules was demonstrated using experimental knockdowns, which also suggested that they could be used as molecular biomarkers and therapeutic targets for SPTB.

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Blood gene transcript signature profiling in pregnancies resulting in preterm birth: A systematic review

Cited by 4 publications

References 42 publications

The Role of Genetics in Preterm Birth

The Role of Genetics in Preterm Birth

Design of a targeted blood transcriptional panel for monitoring immunological changes accompanying pregnancy

Molecular profiling unveils pyroptosis markers in preterm birth

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