{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T10:30:11Z","timestamp":1789122611733,"version":"build-2803163510"},"reference-count":67,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["npj Genom. Med."],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Preterm birth (PTB) is a major cause of neonatal mortality and health complications in infants. Elucidation of its genetic underpinnings can lead to improved understanding of the biological mechanisms and boost the development of methods to predict PTB. Although recent genome-based studies of both mother and fetus have identified several genetic loci which might be implicated in PTB, these results suffer from a lack of consistency across multiple studies and populations. Moreover, results of functional validation of most of these findings are unavailable. Since medically indicated preterm deliveries have well-known heterogeneous causes, we have reviewed only those studies which investigated spontaneous preterm birth (sPTB) and have attempted to suggest probable biological mechanisms by which the implicated genetic factors might result in sPTB. We expect our review to provide a panoramic view of the genetics of sPTB.<\/jats:p>","DOI":"10.1038\/s41525-021-00209-5","type":"journal-article","created":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T10:07:47Z","timestamp":1623146867000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes"],"prefix":"10.1038","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0394-9532","authenticated-orcid":false,"given":"Esha","family":"Bhattacharjee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0249-8856","authenticated-orcid":false,"given":"Arindam","family":"Maitra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,6,8]]},"reference":[{"key":"209_CR1","unstructured":"World Health Organization. Preterm Birth Fact Sheet (WHO, Geneva, 2018)."},{"key":"209_CR2","doi-asserted-by":"publisher","first-page":"E37","DOI":"10.1016\/S2214-109X(18)30451-0","volume":"7","author":"S Chawanpaiboon","year":"2019","unstructured":"Chawanpaiboon, S. et al. Global, regional, and national estimates of levels of preterm birth in 2014: a systematic review and modelling analysis. Lancet Glob. Health 7, E37\u2013E46 (2019).","journal-title":"Lancet Glob. Health"},{"key":"209_CR3","doi-asserted-by":"publisher","first-page":"1139","DOI":"10.1097\/01.AOG.0000437385.88715.4a","volume":"122","author":"Definition of term pregnancy. Committee Opinion No. 579.","year":"2013","unstructured":"Definition of term pregnancy. Committee Opinion No. 579. American college of obstetricians and gynecologists. Obstet. Gynecol. 122, 1139\u20131140 (2013).","journal-title":"Obstet. Gynecol."},{"key":"209_CR4","doi-asserted-by":"publisher","first-page":"2445","DOI":"10.1001\/jama.2013.6235","volume":"309","author":"CY Spong","year":"2013","unstructured":"Spong, C. Y. Defining \u201cterm\u201d pregnancy: recommendations from the defining \u201cterm\u201d pregnancy workgroup. JAMA 309, 2445\u20132446 (2013).","journal-title":"JAMA"},{"key":"209_CR5","doi-asserted-by":"publisher","first-page":"1409","DOI":"10.1111\/apa.13880","volume":"106","author":"TNK Raju","year":"2017","unstructured":"Raju, T. N. K., Buist, A. S., Blaisdell, C. J., Moxey\u2010Mims, M. & Saigal, S. Adults born preterm: a review of general health and system\u2010specific outcomes. Acta Paediatr. 106, 1409\u20131437 (2017).","journal-title":"Acta Paediatr."},{"key":"209_CR6","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/S0140-6736(08)60074-4","volume":"371","author":"RL Goldenberg","year":"2008","unstructured":"Goldenberg, R. L., Culhane, J. F., Iams, J. D. & Romero, R. Epidemiology and causes of preterm birth. Lancet 371, 75\u201384 (2008).","journal-title":"Lancet"},{"key":"209_CR7","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/S1470-0328(03)00021-1","volume":"110","author":"JM Moutquin","year":"2003","unstructured":"Moutquin, J. M. Classification and heterogeneity of preterm birth. BJOG 110, 30\u201333 (2003).","journal-title":"BJOG"},{"key":"209_CR8","doi-asserted-by":"publisher","first-page":"1365","DOI":"10.1093\/aje\/kwp328","volume":"170","author":"AC Svensson","year":"2009","unstructured":"Svensson, A. C. et al. Maternal effects for preterm birth: a genetic epidemiologic study of 630,000 families. Am. J. Epidemiol. 170, 1365\u20131372 (2009).","journal-title":"Am. J. Epidemiol."},{"key":"209_CR9","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1093\/ije\/27.2.248","volume":"27","author":"A Winkvist","year":"1998","unstructured":"Winkvist, A., Mogren, I. & H\u00f6gberg, U. Familial patterns in birth characteristics: impact on individual and population risks. Int J. Epidemiol. 27, 248\u2013254 (1998).","journal-title":"Int J. Epidemiol."},{"key":"209_CR10","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1111\/j.1471-0528.2000.tb13234.x","volume":"107","author":"B Clausson","year":"2000","unstructured":"Clausson, B., Lichtenstein, P. & Cnattingius, S. Genetic influences on birthweight and gestational length determined by studies in offsprings of twins. BJOG 107, 375\u2013381 (2000).","journal-title":"BJOG"},{"key":"209_CR11","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1375\/twin.3.2.80","volume":"3","author":"SA Treloar","year":"2000","unstructured":"Treloar, S. A., Macones, G. A., Mitchell, L. E. & Martin, N. G. Genetic influences on premature parturition in an Australian twin sample. Twin Res. 3, 80\u201382 (2000).","journal-title":"Twin Res."},{"key":"209_CR12","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1159\/000224641","volume":"68","author":"J Plunkett","year":"2009","unstructured":"Plunkett, J. et al. Mother\u2019s genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth. Hum. Hered. 68, 209\u2013219 (2009).","journal-title":"Hum. Hered."},{"key":"209_CR13","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/S0029-7844(97)00215-9","volume":"90","author":"TF Porter","year":"1997","unstructured":"Porter, T. F., Fraser, A. M., Hunter, C. Y., Ward, R. H. & Varner, M. W. The risk of preterm birth across generations. Obstet. Gynecol. 90, 63\u201367 (1997).","journal-title":"Obstet. Gynecol."},{"key":"209_CR14","doi-asserted-by":"publisher","first-page":"1358","DOI":"10.1093\/aje\/kwp324","volume":"170","author":"HA Boyd","year":"2009","unstructured":"Boyd, H. A. et al. Maternal contributions to preterm delivery. Am. J. Epidemiol. 170, 1358\u20131364 (2009).","journal-title":"Am. J. Epidemiol."},{"key":"209_CR15","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1093\/aje\/kwm319","volume":"167","author":"AJ Wilcox","year":"2008","unstructured":"Wilcox, A. J., Skjaerven, R. & Lie, R. T. Familial patterns of preterm delivery: Maternal and fetal contributions. Am. J. Epidemiol. 167, 474\u2013479 (2008).","journal-title":"Am. J. Epidemiol."},{"key":"209_CR16","doi-asserted-by":"publisher","first-page":"e1001293","DOI":"10.1371\/journal.pgen.1001293","volume":"7","author":"R Haataja","year":"2011","unstructured":"Haataja, R. et al. Mapping of a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis. PLoS Genet. 7, e1001293 (2011).","journal-title":"PLoS Genet."},{"key":"209_CR17","doi-asserted-by":"publisher","first-page":"e22125","DOI":"10.1002\/jcla.22125","volume":"31","author":"JR He","year":"2017","unstructured":"He, J. R. et al. Maternal IGF1 and IGF1R polymorphisms and the risk of spontaneous preterm birth. J. Clin. Lab Anal. 31, e22125 (2017).","journal-title":"J. Clin. Lab Anal."},{"key":"209_CR18","doi-asserted-by":"publisher","DOI":"10.1186\/s13058-018-1063-2","volume":"20","author":"AE Obr","year":"2018","unstructured":"Obr, A. E. et al. Insulin-like growth factor receptor signaling in breast tumor epithelium protects cells from endoplasmic reticulum stress and regulates the tumor microenvironment. Breast Cancer Res. 20, 138 (2018).","journal-title":"Breast Cancer Res."},{"key":"209_CR19","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1177\/1099800418791028","volume":"20","author":"TA Moore","year":"2018","unstructured":"Moore, T. A., Ahmad, I. M. & Zimmerman, M. C. Oxidative stress and preterm birth: an integrative review. Biol. Res. Nurs. 20, 497\u2013512 (2018).","journal-title":"Biol. Res. Nurs."},{"key":"209_CR20","doi-asserted-by":"publisher","first-page":"316","DOI":"10.4103\/ijmr.IJMR_1592_15","volume":"146","author":"M Pandey","year":"2017","unstructured":"Pandey, M., Chauhan, M. & Awasthi, S. Interplay of cytokines in preterm birth. Indian J. Med. Res. 146, 316\u2013327 (2017).","journal-title":"Indian J. Med. Res."},{"key":"209_CR21","doi-asserted-by":"publisher","first-page":"e51378","DOI":"10.1371\/journal.pone.0051378","volume":"7","author":"MK Karjalainen","year":"2012","unstructured":"Karjalainen, M. K. et al. A potential novel spontaneous preterm birth gene, AR, identified by linkage and association analysis of X chromosomal markers. PLoS ONE 7, e51378 (2012).","journal-title":"PLoS ONE"},{"key":"209_CR22","doi-asserted-by":"publisher","first-page":"3181","DOI":"10.1093\/nar\/22.15.3181","volume":"22","author":"NL Chamberlain","year":"1994","unstructured":"Chamberlain, N. L., Driver, E. D. & Miesfeld, R. L. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res. 22, 3181\u20133186 (1994).","journal-title":"Nucleic Acids Res."},{"key":"209_CR23","doi-asserted-by":"publisher","first-page":"1066","DOI":"10.3390\/ijms17071066","volume":"17","author":"MS Lee","year":"2016","unstructured":"Lee, M. S., Lee, S. O., Kim, S. H., Lee, E. O. & Lee, H. J. Anti-cancer effect of lambertianic acid by inhibiting the AR in LNCaP cells. Int. J. Mol. Sci. 17, 1066 (2016).","journal-title":"Int. J. Mol. Sci."},{"key":"209_CR24","first-page":"81","volume":"9","author":"F Tarquini","year":"2018","unstructured":"Tarquini, F. et al. Induction of the apoptotic pathway by oxidative stress in spontaneous preterm birth: Single nucleotide polymorphisms, maternal lifestyle factors and health status. Biomed. Rep. 9, 81\u201389 (2018).","journal-title":"Biomed. Rep."},{"key":"209_CR25","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1093\/molehr\/gat036","volume":"19","author":"G Chittoor","year":"2013","unstructured":"Chittoor, G. et al. Localization of a major susceptibility locus influencing preterm birth. Mol. Hum. Reprod. 19, 687\u2013696 (2013).","journal-title":"Mol. Hum. Reprod."},{"key":"209_CR26","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1097\/01.AOG.0000252712.62241.1a","volume":"109","author":"CS Gibson","year":"2007","unstructured":"Gibson, C. S. et al. Genetic polymorphisms and spontaneous preterm birth. Obstet. Gynecol. 109, 384\u2013391 (2007).","journal-title":"Obstet. Gynecol."},{"key":"209_CR27","doi-asserted-by":"publisher","first-page":"16079","DOI":"10.1073\/pnas.1306556110","volume":"110","author":"SY Chuang","year":"2013","unstructured":"Chuang, S. Y. et al. TLR-induced PAI-2 expression suppresses IL-1 processing via increasing autophagy and NLRP3 degradation. Proc. Natl Acad. Sci. USA 110, 16079\u201316084 (2013).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"209_CR28","doi-asserted-by":"publisher","first-page":"6","DOI":"10.3803\/EnM.2013.28.1.6","volume":"28","author":"W Quan","year":"2013","unstructured":"Quan, W. & Lee, M. S. Role of autophagy in the control of body metabolism. Endocrinol. Metab. 28, 6\u201311 (2013).","journal-title":"Endocrinol. Metab."},{"key":"209_CR29","doi-asserted-by":"publisher","first-page":"2342","DOI":"10.3390\/ijms20092342","volume":"20","author":"A Nakashima","year":"2019","unstructured":"Nakashima, A. et al. Current understanding of autophagy in pregnancy. Int J. Mol. Sci. 20, 2342 (2019).","journal-title":"Int J. Mol. Sci."},{"key":"209_CR30","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-016-3089-0","volume":"17","author":"IA Sheikh","year":"2016","unstructured":"Sheikh, I. A. et al. Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update. BMC Genom. 17, 759 (2016).","journal-title":"BMC Genom."},{"key":"209_CR31","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1056\/NEJMoa1612665","volume":"377","author":"G Zhang","year":"2017","unstructured":"Zhang, G. et al. Genetic associations with gestational duration and spontaneous preterm birth. N. Engl. J. Med. 377, 1156\u20131167 (2017).","journal-title":"N. Engl. J. Med."},{"key":"209_CR32","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1007\/s43032-019-00027-2","volume":"27","author":"G Zhou","year":"2020","unstructured":"Zhou, G. et al. EBF1 gene mRNA levels in maternal blood and spontaneous preterm birth. Reprod. Sci. 27, 316\u2013324 (2020).","journal-title":"Reprod. Sci."},{"key":"209_CR33","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.ajog.2011.07.034","volume":"206","author":"HD Mistry","year":"2012","unstructured":"Mistry, H. D., Broughton, P. F., Redman, C. W. & Poston, L. Selenium in reproductive health. Am. J. Obstet. Gynecol. 206, 21\u201330 (2012).","journal-title":"Am. J. Obstet. Gynecol."},{"key":"209_CR34","doi-asserted-by":"publisher","first-page":"S66","DOI":"10.1016\/j.ajog.2019.11.095","volume":"222","author":"RM Rossi","year":"2020","unstructured":"Rossi, R. M. et al. 79: Genetic variants at AGTR2 locus increase risk of preterm birth. Am. J. Obstet. Gynecol. 222, S66\u2013S67 (2020).","journal-title":"Am. J. Obstet. Gynecol."},{"key":"209_CR35","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/j.placenta.2009.04.007","volume":"30","author":"VK Misra","year":"2009","unstructured":"Misra, V. K., Hobel, C. J. & Sing, C. F. Placental blood flow and the risk of preterm delivery. Placenta 30, 619\u2013624 (2009).","journal-title":"Placenta"},{"key":"209_CR36","doi-asserted-by":"publisher","first-page":"e1008107","DOI":"10.1371\/journal.pgen.1008107","volume":"15","author":"H Tiensuu","year":"2019","unstructured":"Tiensuu, H. et al. Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2. PLoS Genet. 15, e1008107 (2019).","journal-title":"PLoS Genet."},{"key":"209_CR37","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1007\/s00439-013-1304-5","volume":"132","author":"JJ McElroy","year":"2013","unstructured":"McElroy, J. J. et al. Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth. Hum. Genet. 132, 935\u2013942 (2013).","journal-title":"Hum. Genet."},{"key":"209_CR38","doi-asserted-by":"publisher","first-page":"e1007394","DOI":"10.1371\/journal.pgen.1007394","volume":"14","author":"JM Huusko","year":"2018","unstructured":"Huusko, J. M. et al. Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth. PLoS Genet. 14, e1007394 (2018).","journal-title":"PLoS Genet."},{"key":"209_CR39","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-016-0394-9","volume":"9","author":"S Takahashi","year":"2017","unstructured":"Takahashi, S. et al. De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. Genome Med. 9, 8 (2017).","journal-title":"Genome Med."},{"key":"209_CR40","doi-asserted-by":"publisher","first-page":"18054","DOI":"10.1074\/jbc.M000434200","volume":"275","author":"Y Morishima","year":"2000","unstructured":"Morishima, Y., Murphy, P. J., Li, D. P., Sanchez, E. R. & Pratt, W. B. Stepwise assembly of a glucocorticoid receptor\u00b7hsp90 heterocomplex resolves two sequential ATP-dependent events involving first hsp70 and then hsp90 in opening of the steroid binding pocket. J. Biol. Chem. 275, 18054\u201318060 (2000).","journal-title":"J. Biol. Chem."},{"key":"209_CR41","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1016\/j.tips.2013.07.003","volume":"34","author":"M Kadmiel","year":"2013","unstructured":"Kadmiel, M. & Cidlowski, J. A. Glucocorticoid receptor signaling in health and disease. Trends Pharm. Sci. 34, 518\u2013530 (2013).","journal-title":"Trends Pharm. Sci."},{"key":"209_CR42","doi-asserted-by":"publisher","first-page":"e50167","DOI":"10.1371\/journal.pone.0050167","volume":"7","author":"K Lei","year":"2012","unstructured":"Lei, K. et al. Progesterone acts via the nuclear glucocorticoid receptor to suppress IL-1beta-induced COX-2 expression in human term myometrial cells. PLoS ONE 7, e50167 (2012).","journal-title":"PLoS ONE"},{"key":"209_CR43","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1038\/cmi.2014.46","volume":"11","author":"N Gomez-Lopez","year":"2014","unstructured":"Gomez-Lopez, N., StLouis, D., Lehr, M. A., Sanchez-Rodriguez, E. N. & Arenas-Hernandez, M. Immune cells in term and preterm labor. Cell Mol. Immunol. 11, 571\u2013581 (2014).","journal-title":"Cell Mol. Immunol."},{"key":"209_CR44","doi-asserted-by":"publisher","first-page":"209.e1","DOI":"10.1016\/j.ajog.2008.08.051","volume":"200","author":"DR Velez","year":"2009","unstructured":"Velez, D. R. et al. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. Am. J. Obstet. Gynecol. 200, 209.e1\u2013209.27 (2009).","journal-title":"Am. J. Obstet. Gynecol."},{"key":"209_CR45","doi-asserted-by":"publisher","first-page":"e108578","DOI":"10.1371\/journal.pone.0108578","volume":"9","author":"A Capece","year":"2014","unstructured":"Capece, A., Vasieva, O., Meher, S., Alfirevic, Z. & Alfirevic, A. Pathway analysis of genetic factors associated with spontaneous preterm birth and pre-labor preterm rupture of membranes. PLoS ONE 9, e108578 (2014).","journal-title":"PLoS ONE"},{"key":"209_CR46","doi-asserted-by":"publisher","first-page":"5819","DOI":"10.1073\/pnas.1716314116","volume":"116","author":"TA Knijnenburg","year":"2019","unstructured":"Knijnenburg, T. A. et al. Genomic and molecular characterization of preterm birth. Proc. Natl Acad. Sci. USA 116, 5819\u20135827 (2019).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"209_CR47","doi-asserted-by":"publisher","first-page":"12375","DOI":"10.1074\/jbc.M114.548321","volume":"289","author":"CE Chua","year":"2014","unstructured":"Chua, C. E. & Tang, B. L. Engagement of the small GTPase Rab31 protein and its effector, early endosome antigen 1, is important for trafficking of the ligand-bound epidermal growth factor receptor from the early to the late endosome. J. Biol. Chem. 289, 12375\u201312389 (2014).","journal-title":"J. Biol. Chem."},{"key":"209_CR48","doi-asserted-by":"publisher","first-page":"e0119723","DOI":"10.1371\/journal.pone.0119723","volume":"10","author":"WM Wang","year":"2015","unstructured":"Wang, W. M. et al. Epidermal growth factor receptor inhibition reduces angiogenesis via hypoxia-inducible factor-1\u03b1 and Notch1 in head and neck squamous cell carcinoma. PLoS ONE 10, e0119723 (2015).","journal-title":"PLoS ONE"},{"key":"209_CR49","doi-asserted-by":"publisher","first-page":"1924","DOI":"10.3389\/fmicb.2019.01924","volume":"10","author":"AM Weckman","year":"2019","unstructured":"Weckman, A. M., Ngai, M., Wright, J., McDonald, C. R. & Kain, K. C. The impact of infection in pregnancy on placental vascular development and adverse birth outcomes. Front Microbiol. 10, 1924 (2019).","journal-title":"Front Microbiol."},{"key":"209_CR50","doi-asserted-by":"publisher","DOI":"10.1038\/srep15221","volume":"5","author":"MK Jaiswal","year":"2015","unstructured":"Jaiswal, M. K. et al. Notch signaling in inflammation-induced preterm labor. Sci. Rep. 5, 15221 (2015).","journal-title":"Sci. Rep."},{"key":"209_CR51","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1530\/rep.1.00197","volume":"130","author":"TM Lindstr\u04e7m","year":"2005","unstructured":"Lindstr\u04e7m, T. M. & Bennett, P. R. The role of nuclear factor kappa B in human labour. Reproduction 130, 569\u2013581 (2005).","journal-title":"Reproduction"},{"key":"209_CR52","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1038\/pr.2012.112","volume":"72","author":"BW Alleman","year":"2012","unstructured":"Alleman, B. W. et al. No observed association for mitochondrial SNPs with preterm delivery and related outcomes. Pediatr. Res. 72, 539\u2013544 (2012).","journal-title":"Pediatr. Res."},{"key":"209_CR53","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.mito.2015.10.005","volume":"25","author":"P de Laat","year":"2015","unstructured":"de Laat, P., Fleuren, L. H. J., Bekker, M. N., Smeitink, J. A. M. & Janssen, M. C. H. Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome. Mitochondrion 25, 98\u2013103 (2015).","journal-title":"Mitochondrion"},{"key":"209_CR54","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-019-2036-9","volume":"10","author":"NMQ Pek","year":"2019","unstructured":"Pek, N. M. Q. et al. Mitochondrial 3243A>G mutation confers pro-atherogenic and pro-inflammatory properties in MELAS iPS derived endothelial cells. Cell Death Dis. 10, 802 (2019).","journal-title":"Cell Death Dis."},{"key":"209_CR55","doi-asserted-by":"publisher","first-page":"2111","DOI":"10.1016\/S0002-9440(10)64849-3","volume":"157","author":"E Jauniaux","year":"2000","unstructured":"Jauniaux, E. et al. Onset of maternal arterial blood flow and placental oxidative stress: a possible factor in human early pregnancy failure. Am. J. Pathol. 157, 2111\u20132122 (2000).","journal-title":"Am. J. Pathol."},{"key":"209_CR56","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1071\/RD9910355","volume":"3","author":"BV Sastry","year":"1991","unstructured":"Sastry, B. V. Placental toxicology: tobacco smoke, abused drugs, multiple chemical interactions, and placental function. Reprod. Fertil. Dev. 3, 355\u2013372 (1991).","journal-title":"Reprod. Fertil. Dev."},{"key":"209_CR57","doi-asserted-by":"publisher","first-page":"E171","DOI":"10.1152\/ajpendo.00260.2003","volume":"288","author":"N Bouhours-Nouet","year":"2005","unstructured":"Bouhours-Nouet, N. et al. Maternal smoking is associated with mitochondrial DNA depletion and respiratory chain complex III deficiency in placenta. Am. J. Physiol. Endocrinol. Metab. 288, E171\u2013E177 (2005).","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"209_CR58","first-page":"74","volume":"445","author":"H Wiktor","year":"2004","unstructured":"Wiktor, H. et al. Oxidative DNA damage in placentas from normal and pre-eclamptic pregnancies. Virchows Arch. 445, 74\u201378 (2004).","journal-title":"Virchows Arch."},{"key":"209_CR59","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.jpeds.2017.10.052","volume":"194","author":"N Crawford","year":"2018","unstructured":"Crawford, N. et al. Divergent patterns of mitochondrial and nuclear ancestry are associated with the risk for preterm birth. J. Pediatr. 194, 40\u201346 (2018).","journal-title":"J. Pediatr."},{"key":"209_CR60","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15608","volume":"8","author":"X Hong","year":"2017","unstructured":"Hong, X. et al. Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth. Nat. Commun. 8, 15608 (2017).","journal-title":"Nat. Commun."},{"key":"209_CR61","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1002\/gepi.21887","volume":"39","author":"H Zhang","year":"2015","unstructured":"Zhang, H. et al. A genome\u2010wide association study of early spontaneous preterm delivery. Genet. Epidemiol. 39, 217\u2013226 (2015).","journal-title":"Genet. Epidemiol."},{"key":"209_CR62","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-18246-5","volume":"8","author":"N Rappoport","year":"2018","unstructured":"Rappoport, N. et al. A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth. Sci. Rep. 8, 226 (2018).","journal-title":"Sci. Rep."},{"key":"209_CR63","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-11881-8","volume":"10","author":"X Liu","year":"2019","unstructured":"Liu, X. et al. Variants in the fetal genome near proinflammatory cytokine genes on 2q13 associate with gestational duration. Nat. Commun. 10, 3927 (2019).","journal-title":"Nat. Commun."},{"key":"209_CR64","doi-asserted-by":"publisher","first-page":"255","DOI":"10.12688\/f1000research.2-255.v1","volume":"2","author":"W Wu","year":"2013","unstructured":"Wu, W. et al. A genome-wide association study of spontaneous preterm birth in a European population [version 1; peer review: 2 approved with reservations]. F1000Research 2, 255 (2013).","journal-title":"F1000Research"},{"key":"209_CR65","doi-asserted-by":"publisher","first-page":"e61781","DOI":"10.1371\/journal.pone.0061781","volume":"8","author":"S Myking","year":"2013","unstructured":"Myking, S. et al. X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish\/Norwegian genome-wide association study. PLoS ONE 8, e61781 (2013).","journal-title":"PLoS ONE"},{"key":"209_CR66","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.jri.2015.03.001","volume":"108","author":"A Schmidt","year":"2015","unstructured":"Schmidt, A., Morales-Prieto, D. M., Pastuschek, J., Fr\u00f6hlich, K. & Markert, U. R. Only humans have human placentas: molecular differences between mice and humans. J. Reprod. Immunol. 108, 65\u201371 (2015).","journal-title":"J. Reprod. Immunol."},{"key":"209_CR67","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1093\/aje\/kwy284","volume":"188","author":"S Bhatnagar","year":"2019","unstructured":"Bhatnagar, S., Majumder, P. P. & Salunke, D. M. A pregnancy cohort to study multidimensional correlates of preterm birth in India: study design, implementation and baseline characteristics of the participants. Am. J. Epidemiol. 188, 621\u2013663 (2019).","journal-title":"Am. J. Epidemiol."}],"container-title":["npj Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41525-021-00209-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41525-021-00209-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41525-021-00209-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,2]],"date-time":"2022-12-02T20:50:38Z","timestamp":1670014238000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41525-021-00209-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,8]]},"references-count":67,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["209"],"URL":"https:\/\/doi.org\/10.1038\/s41525-021-00209-5","relation":{},"ISSN":["2056-7944"],"issn-type":[{"value":"2056-7944","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,8]]},"assertion":[{"value":"11 January 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 May 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 June 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"43"}}