SynthesisPLoS genetics2023
Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci.
Synthesis in PLoS genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- Narrative Review on Therapies That Influence Inflammatory Responses During Extremely Premature Perinatal Respiratory Transition.Acta paediatrica (Oslo, Norway : 1992) · 2026Review
- Maternal Genetic Variants and Gestational Duration: A Replication Study in a Japanese Cohort.Journal of clinical medicine · 2026Article
- Multi-Omics for Mothers and Infants (MOMI) Consortium: a global initiative to study adverse pregnancy outcomes.Journal of global health · 2026Article
- Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data.iScience · 2025Article
- Discovering latent subtypes of preterm birth and genetic risk using tensor decomposition on electronic health records.medRxiv : the preprint server for health sciences · 2025Article
- Parity modifies the effect of genetic variants associated with gestational duration and birth weight.medRxiv : the preprint server for health sciences · 2025Article
- Mapping genetic susceptibility to spontaneous preterm birth: analysis of Utah pedigrees to find inherited genetic factors.American journal of obstetrics and gynecology · 2025Article
- Association of maternal prenatal phthalate exposure and genetic polymorphisms of metabolic enzyme genes with spontaneous preterm birth: a nested case-control study in China.BMC pregnancy and childbirth · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Barrier genes are associated with preterm birth.Frontiers in medicine · 2025Article
- Maternal-fetal conflict and the timing of birth.Evolution, medicine, and public health · 2025Review
- A scoping review of statistical methods to investigate colocalization between genetic associations and microRNA expression in osteoarthritis.Osteoarthritis and cartilage open · 2024Article
- Protective Effect ofInternational journal of molecular sciences · 2024Article
- Placental Origins of Preeclampsia: Insights from Multi-Omic Studies.International journal of molecular sciences · 2024Review
- Recent Advances in Genomic Studies of Gestational Duration and Preterm Birth.Clinics in perinatology · 2024Review
- The mediating role of metabolites between gut microbiome and Hirschsprung disease: a bidirectional two-step Mendelian randomization study.Frontiers in pediatrics · 2024Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 5 countries.
Funding
Abstract
backgroundPreterm birth (<37 weeks of gestation) is a major cause of neonatal death and morbidity. Up to 40% of the variation in timing of birth results from genetic factors, mostly due to the maternal genome.
methodsWe conducted a genome-wide meta-analysis of gestational duration and spontaneous preterm birth in 68,732 and 98,370 European mothers, respectively.
resultsThe meta-analysis detected 15 loci associated with gestational duration, and four loci associated with preterm birth. Seven of the associated loci were novel. The loci mapped to several biologically plausible genes, for example HAND2 whose expression was previously shown to decrease during gestation, associated with gestational duration, and GC (Vitamin D-binding protein), associated with preterm birth. Downstream in silico-analysis suggested regulatory roles as underlying mechanisms for the associated loci. LD score regression found birth weight measures as the most strongly correlated traits, highlighting the unique nature of spontaneous preterm birth phenotype. Tissue expression and colocalization analysis revealed reproductive tissues and immune cell types as the most relevant sites of action.
conclusionWe report novel genetic risk loci that associate with preterm birth or gestational duration, and reproduce findings from previous genome-wide association studies. Altogether, our findings provide new insight into the genetic background of preterm birth. Better characterization of the causal genetic mechanisms will be important to public health as it could suggest new strategies to treat and prevent preterm birth.
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