Summary
This genome-wide association study identified six genetic loci robustly associated with gestational duration and three loci with preterm birth risk across large discovery and replication cohorts. Functional analysis implicated variants affecting uterine development, maternal nutrition, and vascular control, with evidence that these genetic effects operate through the maternal rather than fetal genome. The findings provide mechanistic insight into the genetic architecture of spontaneous preterm birth, a major contributor to neonatal morbidity and mortality.
UK applicability
These genetic findings are population-level associations relevant to all ancestry groups in the UK, potentially informing future risk stratification and therapeutic targets for preterm birth prevention. However, implementation into routine clinical practice would require validation in UK cohorts and integration with non-genetic risk factors already used in antenatal care.
Key measures
Genome-wide association signals; gestational duration (days); preterm birth (binary outcome); functional analysis of variant effects on estrogen receptor binding
Outcomes reported
The study identified genetic variants at six loci (EBF1, EEFSEC, AGTR2, WNT4, ADCY5, and RAP2C) associated with gestational duration and preterm birth through genome-wide association analysis. Functional analysis suggested that these variants operate through maternal genome mechanisms involving uterine development, maternal nutrition, and vascular control.
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