{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:20:49Z","timestamp":1747196449813,"version":"3.40.5"},"reference-count":52,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T00:00:00Z","timestamp":1701216000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Institute of Information & Communications Technology Planning & Evaluation","award":["RS-2022-00155966, Artificial Intelligence Convergence Innovation Human Resources Development (Ewha Womans University)"],"award-info":[{"award-number":["RS-2022-00155966, Artificial Intelligence Convergence Innovation Human Resources Development (Ewha Womans University)"]}]},{"DOI":"10.13039\/501100003662","name":"Korea Evaluation Institute of Industrial Technology","doi-asserted-by":"crossref","award":["RS-2022-00155966"],"award-info":[{"award-number":["RS-2022-00155966"]}],"id":[{"id":"10.13039\/501100003662","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Preterm birth (PTB) refers to delivery before 37 weeks of gestation. Premature neonates exhibit higher neonatal morbidity and mortality rates than term neonates; therefore, it is crucial to predict and prevent PTB. Advancements enable the prediction and prevention of PTB using genetic approaches, especially by investigating its correlation with single nucleotide polymorphisms (SNPs). We aimed to identify impactive and relevant SNPs for the prediction of PTB via whole\u2013genome sequencing analyses of the blood of 31 pregnant women with PTB (n = 13) and term birth (n = 18) who visited the Ewha Womans University Mokdong Hospital from November 1, 2018 to February 29, 2020. A genome-wide association study was performed using PLINK 1.9 software and 256 SNPs were selected and traced through protein-protein interactions. Moreover, a validation study by genotyping was performed on 60 other participants (preterm birth, n = 30; term birth, n = 30) for 25 SNPs related to ion channel binding and receptor complex pathways. Odds ratios were calculated using additive, dominant, and recessive genetic models. The risk of PTB in women with the AG allele of rs2485579 (gene name: <jats:italic>RYR2<\/jats:italic>) was significantly 4.82-fold increase, and the risk of PTB in women with the AG allele of rs7903957 (gene name: <jats:italic>TBX5<\/jats:italic>) was significantly 0.25-fold reduce. Our results suggest that rs2485579 (in <jats:italic>RYR2<\/jats:italic>) can be a genetic marker of PTB, which is considered through the association with abnormal cytoplasmic Ca<jats:sup>2+<\/jats:sup> concentration and dysfunctional uterine contraction due to differences of <jats:italic>RYR2<\/jats:italic> in the sarcoplasmic reticulum.<\/jats:p>","DOI":"10.1371\/journal.pone.0294948","type":"journal-article","created":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T18:34:41Z","timestamp":1701282881000},"page":"e0294948","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":1,"title":["A genome-wide and candidate gene association study of preterm birth in Korean pregnant women"],"prefix":"10.1371","volume":"18","author":[{"given":"Young Min","family":"Hur","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7119-5421","authenticated-orcid":true,"given":"Jae Young","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Ah","family":"You","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunwha","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo Min","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gain","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3153-3008","authenticated-orcid":true,"given":"Young Ju","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2023,11,29]]},"reference":[{"edition":"25","year":"2018","author":"FG Cunningham","key":"pone.0294948.ref001"},{"volume-title":"WHO Newsroom fact sheets Preterm birth [Internet].","year":"2023","author":"World Health Organization","key":"pone.0294948.ref002"},{"issue":"4","key":"pone.0294948.ref003","doi-asserted-by":"crossref","first-page":"e1006689","DOI":"10.1371\/journal.pgen.1006689","article-title":"Fetal de novo mutations and preterm birth","volume":"13","author":"J Li","year":"2017","journal-title":"PLoS Genetics"},{"key":"pone.0294948.ref004","first-page":"1","article-title":"Pregnancies in Elderly Mothers over 40 years: What to Expect from the Rising New Age High-Risk Cohort?","author":"SE Tambvekar","year":"2023","journal-title":"J Obstet Gynaecol India."},{"key":"pone.0294948.ref005","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1007\/s00404-002-0359-7","article-title":"Health risks for early (\u2264 19) and late (\u2265 35) childbearing.","volume":"268","author":"S Ozalp","year":"2003","journal-title":"Arch Obstet Gynaecol"},{"key":"pone.0294948.ref006","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1007\/s10995-014-1624-7","article-title":"Maternal age and risk of labor and delivery complications.","volume":"19","author":"PA Cavazos-Rehg","year":"2015","journal-title":"Matern Child Health J."},{"issue":"1","key":"pone.0294948.ref007","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1097\/GRF.0b013e3181616545","article-title":"Genetic factors in common obstetric disorders","volume":"51","author":"K. 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