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Despite its global significance, there has only been limited progress in preventing preterm birth. Spontaneous preterm birth (sPTB) results from a wide variety of pathological processes. Although many non\u2010genetic risk factors influence the timing of gestation and labor, compelling evidence supports the role of substantial genetic and epigenetic influences and their interactions with the environment contributing to sPTB. To investigate a common and complex disease such as sPTB, various approaches such as genome\u2010wide association studies, whole\u2010exome sequencing, transcriptomics, and integrative approaches combining these with other \u2018omics studies have been used. However, many of these studies were typically small or focused on a single ethnicity or geographic region with limited data, particularly in populations at high risk for sPTB, or lacked a robust replication. These studies found many genes involved in the inflammation and immunity\u2010related pathways that may affect sPTB. Recent studies also suggest the role of epigenetic modifications of gene expression by the environmental signals as a potential contributor to the risk of sPTB. Future genetic studies of sPTB should continue to consider the contributions of both maternal and fetal genomes as well as their interaction with the environment.<\/jats:p>","DOI":"10.1111\/aji.13600","type":"journal-article","created":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T10:38:07Z","timestamp":1657622287000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Genetics, epigenetics, and transcriptomics of preterm birth"],"prefix":"10.1111","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1897-6461","authenticated-orcid":false,"given":"Viral G.","family":"Jain","sequence":"first","affiliation":[{"name":"Division of Neonatology Department of Pediatrics The University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagendra","family":"Monangi","sequence":"additional","affiliation":[{"name":"Division of Neonatology Cincinnati 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