{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:44:33Z","timestamp":1761745473926},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T00:00:00Z","timestamp":1617926400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T00:00:00Z","timestamp":1617926400000},"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":["Pediatr Res"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>DNA polymorphisms in <jats:italic>PTGIS<\/jats:italic> and <jats:italic>TFAP2B<\/jats:italic> have been identified as risk factors for patent ductus arteriosus (PDA) in a population composed of preterm infants with European genetic ancestry but not in more genetically diverse populations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Goal<\/jats:title>\n                <jats:p>To determine if the effects of TFAP2B and <jats:italic>PTGIS<\/jats:italic> polymorphisms on ductus arteriosus (DA) gene expression differ based on genetic ancestry.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>DA from 273 human second trimester fetuses were genotyped for <jats:italic>TFAP2B<\/jats:italic> and <jats:italic>PTGIS<\/jats:italic> polymorphisms and for polymorphisms distributing along genetic ancestry lines. RT-PCR was used to measure the RNA expression of 49 candidate genes involved with DA closure.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Seventeen percent of the DA analyzed were of European ancestry. In multivariable regression analyses we found consistent associations between four PDA-related <jats:italic>TFAP2B<\/jats:italic> polymorphisms (rs2817399(A), rs987237(G), rs760900(C), and rs2817416(C)) and expression of the following genes: <jats:italic>EPAS1<\/jats:italic>, <jats:italic>CACNB2<\/jats:italic>, <jats:italic>ECE1<\/jats:italic>, <jats:italic>KCNA2<\/jats:italic>, <jats:italic>ATP2A3<\/jats:italic>, <jats:italic>EDNRA<\/jats:italic>, <jats:italic>EDNRB<\/jats:italic>, <jats:italic>BMP9<\/jats:italic>, and <jats:italic>BMP10<\/jats:italic>, and between the PTGIS haplotype rs493694(G)\/rs693649(A) and <jats:italic>PTGIS<\/jats:italic> and <jats:italic>NOS3<\/jats:italic>. These changes only occurred in DA with European ancestry. No consistent positive or negative associations were found among DA samples unless an interaction between the polymorphisms and genetic ancestry was taken into account.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p><jats:italic>PTGIS<\/jats:italic> and <jats:italic>TFAP2B<\/jats:italic> polymorphisms were associated with consistent changes in DA gene expression when present in fetuses with European ancestry.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Impact<\/jats:title>\n                <jats:p><jats:list list-type=\"bullet\">\n                  <jats:list-item>\n                    <jats:p>DNA polymorphisms in PTGIS and TFAP2B have been identified as risk factors for patent ductus arteriosus (PDA) in a population composed primarily of preterm infants with European genetic ancestry but not in more genetically diverse populations.<\/jats:p>\n                  <\/jats:list-item>\n                  <jats:list-item>\n                    <jats:p>The same PTGIS and TFAP2B polymorphisms are associated with changes in ductus gene expression when present in ductus from fetuses with European genetic ancestry.<\/jats:p>\n                  <\/jats:list-item>\n                  <jats:list-item>\n                    <jats:p>No consistent associations with gene expression can be found unless an interaction between the polymorphisms and genetic ancestry is taken into account.<\/jats:p>\n                  <\/jats:list-item>\n                <\/jats:list><\/jats:p>\n              <\/jats:sec>","DOI":"10.1038\/s41390-021-01506-6","type":"journal-article","created":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T13:02:58Z","timestamp":1617973378000},"page":"903-911","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Interactions between PDA-associated polymorphisms and genetic ancestry alter ductus arteriosus gene expression"],"prefix":"10.1038","volume":"91","author":[{"given":"Ronald I.","family":"Clyman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy K.","family":"Hills","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Dagle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey C.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keegan","family":"Kelsey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,4,9]]},"reference":[{"key":"1506_CR1","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1016\/j.jpeds.2007.05.007","volume":"151","author":"N Chorne","year":"2007","unstructured":"Chorne, N., Jegatheesan, P., Lin, E., Shi, R. & Clyman, R. 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