{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T01:39:43Z","timestamp":1789349983086,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,1,19]],"date-time":"2015-01-19T00:00:00Z","timestamp":1421625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Eunice Kennedy Shriver"},{"name":"National Institute of Child Health and Human Development Genomic and Proteomic Network for Preterm Birth Research","award":["U01-HD-050062"],"award-info":[{"award-number":["U01-HD-050062"]}]},{"name":"National Institute of Child Health and Human Development Genomic and Proteomic Network for Preterm Birth Research","award":["U01-HD-050078"],"award-info":[{"award-number":["U01-HD-050078"]}]},{"name":"National Institute of Child Health and Human Development Genomic and Proteomic Network for Preterm Birth Research","award":["U01-HD-050080"],"award-info":[{"award-number":["U01-HD-050080"]}]},{"name":"National Institute of Child Health and Human Development Genomic and Proteomic Network for Preterm Birth Research","award":["U01-HD-050088"],"award-info":[{"award-number":["U01-HD-050088"]}]},{"name":"National Institute of Child Health and Human Development Genomic and Proteomic Network for Preterm Birth Research","award":["U01-HD-050094"],"award-info":[{"award-number":["U01-HD-050094"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Preterm birth is the leading cause of infant morbidity and mortality. Despite extensive research, the genetic contributions to spontaneous preterm birth (SPTB) are not well understood. Term controls were matched with cases by race\/ethnicity, maternal age, and parity prior to recruitment. Genotyping was performed using Affymetrix SNP Array 6.0 assays. Statistical analyses utilized PLINK to compare allele occurrence rates between case and control groups, and incorporated quality control and multiple\u2010testing adjustments. We analyzed DNA samples from mother\u2013infant pairs from early SPTB cases (20<jats:sup>0\/7<\/jats:sup>\u201333<jats:sup>6\/7<\/jats:sup> weeks, 959 women and 979 neonates) and term delivery controls (39<jats:sup>0\/7<\/jats:sup>\u201341<jats:sup>6\/7<\/jats:sup> weeks, 960 women and 985 neonates). For validation purposes, we included an independent validation cohort consisting of early SPTB cases (293 mothers and 243 infants) and term controls (200 mothers and 149 infants). Clustering analysis revealed no population stratification. Multiple maternal SNPs were identified with association <jats:italic>P<\/jats:italic>\u2010values between 10 \u00d7 10<jats:sup>\u20135<\/jats:sup> and 10 \u00d7 10<jats:sup>\u20136<\/jats:sup>. The most significant maternal SNP was rs17053026 on chromosome 3 with an odds ratio (OR) 0.44 with a <jats:italic>P<\/jats:italic>\u2010value of 1.0 \u00d7 10<jats:sup>\u20136<\/jats:sup>. Two neonatal SNPs reached the genome\u2010wide significance threshold, including rs17527054 on chromosome 6p22 with a <jats:italic>P<\/jats:italic>\u2010value of 2.7 \u00d7 10<jats:sup>\u201312<\/jats:sup> and rs3777722 on chromosome 6q27 with a <jats:italic>P<\/jats:italic>\u2010value of 1.4 \u00d7 10<jats:sup>\u201310<\/jats:sup>. However, we could not replicate these findings after adjusting for multiple comparisons in a validation cohort. This is the first report of a genome\u2010wide case\u2010control study to identify single nucleotide polymorphisms (SNPs) that correlate with SPTB.<\/jats:p>","DOI":"10.1002\/gepi.21887","type":"journal-article","created":{"date-parts":[[2015,1,19]],"date-time":"2015-01-19T21:45:21Z","timestamp":1421703921000},"page":"217-226","source":"Crossref","is-referenced-by-count":55,"title":["A Genome\u2010Wide Association Study of Early Spontaneous Preterm Delivery"],"prefix":"10.1002","volume":"39","author":[{"given":"Heping","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Biostatistics Yale University School of Public Health  New Haven Connecticut United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Don A.","family":"Baldwin","sequence":"additional","affiliation":[{"name":"Pathonomics LLC  Philadelphia Pennsylvania United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radek K.","family":"Bukowski","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Texas Medical Branch  Galveston Texas United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Parry","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Pennsylvania School of Medicine  Philadelphia Pennsylvania United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaji","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Biostatistics Yale University School of Public Health  New Haven Connecticut United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Biostatistics Yale University School of Public Health  New Haven Connecticut United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William W.","family":"Andrews","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Alabama at Birmingham  Birmingham Alabama United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George R.","family":"Saade","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Texas Medical Branch  Galveston Texas United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Sean","family":"Esplin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Utah School of Medicine  Salt Lake City Utah United States of America"},{"name":"Intermountain Healthcare  Salt Lake City Utah United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoel","family":"Sadovsky","sequence":"additional","affiliation":[{"name":"Magee\u2010Womens Research Institute University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma M.","family":"Reddy","sequence":"additional","affiliation":[{"name":"Pregnancy and Perinatology Branch Eunice Kennedy Shriver National Institute of Child Health and Human Development  Bethesda Maryland United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Ilekis","sequence":"additional","affiliation":[{"name":"Pregnancy and Perinatology Branch Eunice Kennedy Shriver National Institute of Child Health and Human Development  Bethesda Maryland United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Varner","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Utah School of Medicine  Salt Lake City Utah United States of America"},{"name":"Intermountain Healthcare  Salt Lake City Utah United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Joseph R.","family":"Biggio","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Alabama at Birmingham  Birmingham Alabama United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Genomic and Proteomic Network for Preterm Birth Research (GPN\u2010PBR)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,1,19]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200002243420802"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000187223.69947.db"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005721-200605000-00008"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.21688"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199311253292210"},{"key":"e_1_2_13_7_1","first-page":"1","article-title":"Births: preliminary data for 2012","volume":"62","author":"Hamilton BE","year":"2013","journal-title":"Nat Vital Stat Rep"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh091"},{"key":"e_1_2_13_9_1","volume-title":"Preterm Birth: Causes, Consequences, and Prevention","author":"Institute of Medicine, Committee on Understanding Premature Birth and Assuring Healthy Outcomes","year":"2007"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.284.7.843"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0905980"},{"key":"e_1_2_13_12_1","first-page":"1","article-title":"Births: final data for 2003","volume":"54","author":"Martin JA","year":"2005","journal-title":"Nat Vital Stat Rep"},{"key":"e_1_2_13_13_1","first-page":"1","article-title":"Infant mortality statistics from the 2002 period: linked birth\/infant death data set","volume":"53","author":"Mathews TJ","year":"2004","journal-title":"Nat Vital Stat Rep"},{"key":"e_1_2_13_14_1","unstructured":"PurcellS.PLINK. Version 1.07.http:\/\/pngu.mgh.harvard.edu\/purcell\/plink\/"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwp328"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200008103430601"}],"container-title":["Genetic Epidemiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgepi.21887","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgepi.21887","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gepi.21887","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T21:33:43Z","timestamp":1696368823000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gepi.21887"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,19]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1002\/gepi.21887"],"URL":"https:\/\/doi.org\/10.1002\/gepi.21887","archive":["Portico"],"relation":{},"ISSN":["0741-0395","1098-2272"],"issn-type":[{"value":"0741-0395","type":"print"},{"value":"1098-2272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1,19]]}}}