Genetic studies of gestational duration and preterm birth

Best Practice & Research. Clinical Obstetrics & Gynaecology
Ge ZhangLouis J Muglia

Abstract

The fine control of birth timing is important to human survival and evolution. A key challenge in studying the mechanisms underlying the regulation of human birth timing is that human parturition is a unique to human event - animal models provide only limited information. The duration of gestation or the risk of preterm birth is a complex human trait under genetic control from both maternal and fetal genomes. Genomic discoveries through genome-wide association (GWA) studies would implicate relevant genes and pathways. Similar to other complex human traits, gestational duration is likely to be influenced by numerous genetic variants of small effect size. The detection of these small-effect genetic variants requires very large sample sizes. In addition, several practical and analytical challenges, in particular the involvement of both maternal and fetal genomes, further complicate the genetic studies of gestational duration and other pregnancy phenotypes. Despite these challenges, large-scale GWA studies have already identified several genomic loci associated with gestational duration or the risk of preterm birth. These genomic discoveries have revealed novel insights about the biology of human birth timing. Expanding genomic dis...Continue Reading

Citations

May 10, 2020·Journal of Racial and Ethnic Health Disparities·Kirsten A RigganMegan A Allyse
Mar 3, 2020·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Philippe CharlierJacques Hassin
May 15, 2020·International Journal of Molecular Sciences·Yury A BarbitoffAndrey S Glotov
Feb 24, 2021·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Ravisha M SrinivasjoisGavin Pereira
May 21, 2021·Clinical Genetics·Joana CouceiroAlexandre Quintas
Jul 4, 2021·Journal of Nephrology·Marzieh Saei Ghare NazFahimeh Ramezani Tehrani
Jun 18, 2021·BJOG : an International Journal of Obstetrics and Gynaecology·L GoodfellowJhhm van de Wijgert
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Jun 23, 2020·American Journal of Obstetrics and Gynecology·Yoel SadovskyUNKNOWN Burroughs Wellcome Fund Pregnancy Think Tank Working Group

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Methods Mentioned

BETA
genotyping

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