bioRxiv Science⌕ Search

bioRxiv · 10.1101/2024.12.13.628167

Distinct DNA Methylation Signatures in Maternal Blood Reveal Unique Immune Cell Shifts in Preeclampsia and the Pregnancy-Postpartum Transition

Abstract

1.0Preeclampsia (PE) is a hypertensive disorder of pregnancy characterized by immune dysregulation and significant risks to maternal and fetal health. While current management relies on high-risk patient monitoring and early diagnosis, these methods are costly and burdensome, especially for low-risk pregnancies. There is a pressing need for non-invasive tools to predict and monitor PE. DNA methylation (DNAm) is a type of DNA modification that influences gene expression, and has been associated with immune cell dynamics and PE pathogenesis. This study explores whether DNAm-based immune cell composition profiling can provide insights into PE-related immune dysregulation. We conducted a search in the Gene Expression Omnibus (GEO) for DNA methylation datasets using Illumina 27K, 450K, and EPIC arrays from maternal blood in both healthy and PE pregnancies. We found two studies that met our criteria, involving a total of 24 healthy pregnancies and 14 with PE. To estimate the composition of immune cells (including CD8T, CD4T, Monocytes, Natural Killer, Neutrophils, Eosinophils, and B cells) based on DNA methylation data, we employed the R package EpiDISH. We used a linear model to compare statistical differences in the proportions of immune cells between PE cases and the control group. Longitudinal trends were also examined to capture immune cell shifts from pregnancy to postpartum. We found that monocyte proportions were significantly reduced in preeclamptic pregnancies compared to normotensive pregnancies (p=0.013). No significant differences were observed in other immune cell types, including T cells, B cells, neutrophils, eosinophils, and natural killer cells. Longitudinal analyses revealed substantial immune cell shifts in the postpartum period, including increased monocytes, B cells, CD4+ T cells, and CD8+ T cells, emphasizing the importance of gestational age in immune dynamics. These findings support DNAm profiling as a valuable tool for understanding immune cell dynamics in PE. Reduced monocyte proportions in PE highlight the role of immune dysregulation in its pathogenesis. Longitudinal sampling provides additional insights into the evolution of immune changes throughout pregnancy and postpartum, offering potential for developing predictive and monitoring tools for PE. Future studies with larger, more diverse cohorts are essential to refine the utility of DNAm in pregnancy complications.

Source connections

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Jamshed, L., Smith, K. W., Wilson, S. L.. 2024-12-18. Distinct DNA Methylation Signatures in Maternal Blood Reveal Unique Immune Cell Shifts in Preeclampsia and the Pregnancy-Postpartum Transition. https://doi.org/10.1101/2024.12.13.628167

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

Structural variation in repeat elements is widespread in normal human tissues and in tumorigenesis

Somatic mosaicism contributes to genomic variation, yet postzygotic structural variants remain under-characterized. We performed long- and short-read WGS from multiple individuals (n=47 normal tissues; n=168 samples) and identified mosaic structural variants in all individuals and germ layers, impacting a median 285.2 kb/genome. Nearly half of breakpoints were independently validated, with tissue distributions reflecting both early and late developmental origins. Most mosaic variants were repeat-mediated and 8.3% overlapped functional elements, an enrichment compared to germline variants. To extend these analyses in samples where long-read sequencing is infeasible, we measured repeat alterations from short-read sequencing, recapitulating mosaic tissue-specific differences. We characterized tumor- and tissue- specific variation in repeats across 15 cancer types and found tumor-related repeat variation to be similar in scale to that of normal mosaic variation. Tracking repeat changes in cell-free DNA provided a noninvasive approach for tumor monitoring. Our analyses revealed widespread repeat-driven structural variation in health and disease.

genomics↗

RNA isoform-resolved multiplexed sequencing with bioorthogonal barcoding

RNA isoform dysregulation drives disease pathogenesis and is the target of FDA-approved splice-switching therapeutics. However, multiplexed sequencing methods discard splice junction information because only 3' termini are barcoded and counted. Here, we repurpose acylation and click chemistries to conjugate bioorthogonal barcodes (bobcodes) directly onto multiple internal positions along cellular RNAs. Bobcoded RNAs from multiple samples are pooled for multiplexed cDNA synthesis, during which reverse transcriptase switches from each RNA template onto its tethered bobcode with greater than 99% accuracy in species mixing experiments. Bobcode attachment intervals set cDNA insert sizes without a library fragmentation step, and priming with poly(dT) or random hexamers selects between 3'-end counting and full-length isoform capture. A bioorthogonal barcode-sequencing (BOB-seq v0.1) drug screen identifies transcriptome-wide on- and off-target RNA splicing effects and outperforms existing multiplexing RNA sequencing methods in workflow simplicity, sample-to-sample variability, and barcoding accuracy. Bobcodes add isoform resolution to scalable multiplexed RNA sequencing.

genomics↗

Structural polymorphism and population-variable coding capacity of HERV-K(HML-2) in human pangenomes

Approximately 8% of the human genome is derived from ancient retroviral infections. The most recently integrated of these endogenous retroviruses is the HERV-K(HML-2) clade, whose expression has been associated with cancer, amyotrophic lateral sclerosis, and embryogenesis. Studies of HERV expression, particularly HML-2, have relied predominantly on short-read sequencing. However, the high similarity among HML-2 proviruses prevents many short reads from being assigned uniquely to individual loci. We therefore compared haplotype-resolved long-read genome assemblies from 292 donors to resolve variation in proviral structure and coding capacity. Several loci previously thought to be fixed were structurally polymorphic. Tandem arrays occurred at 13 loci and contained up to six proviral copies in a single array. At 8q11.23, we identified a previously undescribed full-length provirus in one haplotype. All 583 other haplotypes carried a solo-LTR. We found that standard reference genomes failed to represent the coding capacity retained in many individuals, whose proviruses contained intact open reading frames despite disruptive mutations in the reference sequences. Short-read genotypes left 32.5% of the tested donor-variant pairs unresolved at sites associated with viral reading frames. These findings show why HML-2 expression must be interpreted in the context of the structural and coding alleles each individual carries.

genomics↗