Abstract
(Abstracted from N Engl J Med 2017;377:1156–1167) Preterm birth, caused by idiopathic onset of uterine contractions or rupture of fetal membranes, is a major risk factor for death in neonates and children younger than 5 years. Although there is evidence that preterm birth and gestational duration are affected by both maternal and fetal genomes, robust associations with genetic variations are still not established.
Highlights
Despite evidence that genetic factors contribute to the duration of gestation and the risk of preterm birth, robust associations with genetic variants have not been identified
In the discovery and replication data sets, four loci (EBF1, EEFSEC, AGTR2, and WNT4) were significantly associated with gestational duration
An analysis of mother–infant dyads suggested that these variants act at the level of the maternal genome. In this genomewide association study, we found that variants at the EBF1, EEFSEC, AGTR2, WNT4, ADCY5, and RAP2C loci were associated with gestational duration and variants at the EBF1, EEFSEC, and AGTR2 loci with preterm birth
Summary
We performed a genomewide association study in a discovery set of samples obtained from 43,568 women of European ancestry using gestational duration as a continuous trait and term or preterm (
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