Genome and transcriptome profiling of spontaneous preterm birth phenotypes



Gupta, Juhi K ORCID: 0000-0002-8292-9846, Care, Angharad, Goodfellow, Laura ORCID: 0000-0002-8111-5007, Alfirevic, Zarko, Muller-Myhsok, Bertram ORCID: 0000-0002-0719-101X and Alfirevic, Ana ORCID: 0000-0002-2801-9817
(2022) Genome and transcriptome profiling of spontaneous preterm birth phenotypes. SCIENTIFIC REPORTS, 12 (1). 1003-.

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Abstract

Preterm birth (PTB) occurs before 37 weeks of gestation. Risk factors include genetics and infection/inflammation. Different mechanisms have been reported for spontaneous preterm birth (SPTB) and preterm birth following preterm premature rupture of membranes (PPROM). This study aimed to identify early pregnancy biomarkers of SPTB and PPROM from the maternal genome and transcriptome. Pregnant women were recruited at the Liverpool Women's Hospital. Pregnancy outcomes were categorised as SPTB, PPROM (≤ 34 weeks gestation, n = 53), high-risk term (HTERM, ≥ 37 weeks, n = 126) or low-risk (no history of SPTB/PPROM) term (LTERM, ≥ 39 weeks, n = 188). Blood samples were collected at 16 and 20 weeks gestation from which, genome (UK Biobank Axiom array) and transcriptome (Clariom D Human assay) data were acquired. PLINK and R were used to perform genetic association and differential expression analyses and expression quantitative trait loci (eQTL) mapping. Several significant molecular signatures were identified across the analyses in preterm cases. Genome-wide significant SNP rs14675645 (ASTN1) was associated with SPTB whereas microRNA-142 transcript and PPARG1-FOXP3 gene set were associated with PPROM at week 20 of gestation and is related to inflammation and immune response. This study has determined genomic and transcriptomic candidate biomarkers of SPTB and PPROM that require validation in diverse populations.

Item Type: Article
Uncontrolled Keywords: Humans, Fetal Membranes, Premature Rupture, Premature Birth, Receptors, Cell Surface, Nerve Tissue Proteins, PPAR gamma, MicroRNAs, Pregnancy Outcome, Gene Expression Profiling, Pregnancy, Quantitative Trait Loci, Adult, Female, Forkhead Transcription Factors, Genome-Wide Association Study, Biomarkers
Divisions: Faculty of Health and Life Sciences
Faculty of Health and Life Sciences > Institute of Life Courses and Medical Sciences
Faculty of Health and Life Sciences > Institute of Population Health
Faculty of Health and Life Sciences > Institute of Systems, Molecular and Integrative Biology
Depositing User: Symplectic Admin
Date Deposited: 13 May 2022 15:20
Last Modified: 18 Jan 2023 21:03
DOI: 10.1038/s41598-022-04881-0
Related URLs:
URI: https://livrepository.liverpool.ac.uk/id/eprint/3154775