Related Experiment Video
Updated: Feb 23, 2026

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
Published on: November 20, 2015
Genetic Associations with Gestational Duration and Spontaneous Preterm Birth.
Ge Zhang1, Bjarke Feenstra1, Jonas Bacelis1
1From the Division of Human Genetics (G.Z., L.J.M.), Center for Autoimmune Genomics and Etiology (M.T.W., D.E.M., X.C., C.R.F., L.C.K.) and the Divisions of Biomedical Informatics and Developmental Biology (M.T.W.), Cincinnati Children's Hospital Medical Center, and the Center for Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center and March of Dimes Prematurity Research Center Ohio Collaborative (G.Z., L.M.M., M.P., J.M.H., L.J.M.), Cincinnati; the Department of Epidemiology Research, Statens Serum Institut (B.F., X.L., F.G., H.A.B., M.M.), and the Department of Clinical Medicine, University of Copenhagen (M.M.), Copenhagen, and the Research Unit of Gynecology and Obstetrics, Institute of Clinical Research, University of Southern Denmark, Odense (E.A.N.) - all in Denmark; the Department of Obstetrics and Gynecology, Sahlgrenska University Hospital Östra (J.B., V.S.), the Department of Obstetrics and Gynecology, Institute of Clinical Sciences (J.J.), and the Department of Obstetrics and Gynecology (B.J.), Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; 23andMe, Mountain View (N.L., P.-P.J., L.R., D.A.H., Y.H.), and the Department of Medicine, Stanford University School of Medicine, Stanford (M.M.) - both in California; the Department of Ecology and Evolutionary Biology, Yale University (A.R.C., G.P.W., M.C.N., J.M.), and the Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale Medical School (G.P.W.), New Haven, and the Yale Systems Biology Institute, West Haven (A.R.C., G.P.W., M.C.N., J.M.) - all in Connecticut; the Department of Obstetrics and Gynecology, Wayne State University, Detroit (G.P.W.); the PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, and the Department of Children and Adolescents, Oulu University Hospital, Oulu (M.K.K., M.R., J.M.H., M.H.), and the Institute for Molecular Medicine Finland, University of Helsinki (A.P.), and Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital (K.T.), Helsinki - all in Finland; the Analytic and Translational Genetics Unit, Department of Medicine, the Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, and the Department of Neurology, Massachusetts General Hospital, Boston (A.P.), and the Program in Medical and Population Genetics and the Stanley Center for Psychiatric Research, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge (A.P.) - both in Massachusetts; the Departments of Pediatrics (A.M., B.B.) and Epidemiology (K.K.R.), College of Public Health, and the Department of Pediatrics (K.K.R.), Carver College of Medicine, University of Iowa, Iowa City; the Medical Research Council Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom (G.D.S.); and the Department of Genetics and Bioinformatics, Area of Health Data and Digitalization, Norwegian Institute of Public Health, Oslo (B.J.).
Genetic variants in EBF1, EEFSEC, AGTR2, WNT4, ADCY5, and RAP2C are linked to gestational duration. Specific variants in EBF1, EEFSEC, and AGTR2 are also associated with preterm birth risk.
Area of Science:
- Genetics
- Reproductive Biology
- Genomics
Background:
- Genetic factors are known to influence gestation length and preterm birth risk.
- However, specific genetic variants associated with these outcomes have remained largely unidentified.
Purpose of the Study:
- To identify genetic variants associated with gestational duration and preterm birth.
- To investigate the genetic underpinnings of pregnancy duration and its complications.
Main Methods:
- A large-scale genomewide association study was conducted using over 43,000 women of European ancestry.
- Gestational duration was analyzed as a continuous trait, and birth outcome (term vs. preterm) as a dichotomous trait.
- Replication analysis was performed using three Nordic datasets comprising 8,643 women.
Main Results:
- Four loci (EBF1, EEFSEC, AGTR2, WNT4) showed significant association with gestational duration.
- Variants in ADCY5 and RAP2C demonstrated suggestive significance for gestational duration in discovery sets and significant association in replication sets.
- Common variants in EBF1, EEFSEC, and AGTR2 were significantly associated with preterm birth, acting through the maternal genome.
Conclusions:
- This study identified multiple genetic loci associated with gestational duration and preterm birth.
- The identified genes have known roles in uterine development, maternal nutrition, and vascular control, supporting their biological relevance.
- These findings advance our understanding of the genetic architecture of pregnancy duration and the risk of preterm birth.
Related Concept Videos
Teratogenicity
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pathophysiology of Diabetes
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Diabetes Mellitus: Type 2 and Gestational
Gene-Environment Interactions

