{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T11:11:32Z","timestamp":1719659492644},"reference-count":38,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2017,12,4]],"date-time":"2017-12-04T00:00:00Z","timestamp":1512345600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["www.cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Atrial septal defect is one of the most common CHD. The pathogenesis of atrial septal defect still remains unknown.<jats:italic>Cx43<\/jats:italic>is the most prevalent connexin in the mammalian heart during development. Its genetic variants can cause several CHD. The aim of our study was to investigate the association of genetic variations of the<jats:italic>Cx43<\/jats:italic>with sporadic atrial septal defect. A total of 450 paediatric patients were recruited, including 150 cases with atrial septal defect and 300 healthy controls. The promoter region of<jats:italic>Cx43<\/jats:italic>was analysed by sequencing after polymerase chain reaction. All data were analysed by using the Statistic Package for Social Science 19.0 software. The frequency of the single nucleotide polymorphism rs2071166 was significantly higher in atrial septal defect cases than in healthy controls. The CC genotype at rs2071166 site in<jats:italic>Cx43<\/jats:italic>was correlated with an increased risk for atrial septal defect (p&lt;0.0001, odds ratio=3.891, 95% confidence interval 1.948\u20137.772) and the C allele was positively correlated with atrial septal defect (p=0.007, odds ratio=1.567, 95% confidence interval 1.129\u20132.175). In conclusion, our results confirmed that rs2071166 in<jats:italic>Cx43<\/jats:italic>may be relevant with an increased atrial septal defect risk.<\/jats:p>","DOI":"10.1017\/s1047951117002001","type":"journal-article","created":{"date-parts":[[2017,12,4]],"date-time":"2017-12-04T04:57:05Z","timestamp":1512363425000},"page":"397-402","update-policy":"http:\/\/dx.doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":2,"title":["Association of<i>Cx43<\/i>rs2071166 polymorphism with an increased risk for atrial septal defect"],"prefix":"10.1017","volume":"28","author":[{"given":"Ruoyi","family":"Gu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoying","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2017,12,4]]},"reference":[{"key":"S1047951117002001_ref30","doi-asserted-by":"publisher","DOI":"10.1067\/mva.2000.104589"},{"key":"S1047951117002001_ref31","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951110001630"},{"key":"S1047951117002001_ref29","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201890"},{"key":"S1047951117002001_ref27","doi-asserted-by":"publisher","DOI":"10.1007\/s10528-016-9780-7"},{"key":"S1047951117002001_ref24","doi-asserted-by":"publisher","DOI":"10.1006\/jmcc.1997.0380"},{"key":"S1047951117002001_ref21","first-page":"971","article-title":"Mutations of connexin43 in fetuses with congenital heart malformations","volume":"118","author":"Chen","year":"2005","journal-title":"Chin Med J"},{"key":"S1047951117002001_ref20","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20958"},{"key":"S1047951117002001_ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2015.06.005"},{"key":"S1047951117002001_ref9","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1998.8891"},{"key":"S1047951117002001_ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2009.02.028"},{"key":"S1047951117002001_ref8","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.143.6.1725"},{"key":"S1047951117002001_ref6","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2013.00070"},{"key":"S1047951117002001_ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.175"},{"key":"S1047951117002001_ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-013-0434-0"},{"key":"S1047951117002001_ref36","doi-asserted-by":"publisher","DOI":"10.1038\/nature09266"},{"key":"S1047951117002001_ref13","doi-asserted-by":"publisher","DOI":"10.1016\/S0027-5107(01)00160-9"},{"key":"S1047951117002001_ref18","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2016.47"},{"key":"S1047951117002001_ref7","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1242\/dev.124.7.1281","article-title":"Heart and neural tube defects in transgenic mice overexpressing the Cx43 gap junction gene","volume":"124","author":"Ewart","year":"1997","journal-title":"Development"},{"key":"S1047951117002001_ref19","doi-asserted-by":"publisher","DOI":"10.4103\/0975-3583.89804"},{"key":"S1047951117002001_ref26","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2015.02.001"},{"key":"S1047951117002001_ref25","doi-asserted-by":"crossref","unstructured":"Cao Y , Wang J , Wei C , et al. Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population. Gene 2015.","DOI":"10.1016\/j.gene.2015.08.033"},{"key":"S1047951117002001_ref12","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvn133"},{"key":"S1047951117002001_ref38","first-page":"287","article-title":"The expression of connexin 43 in children with tetralogy of Fallot","volume":"10","author":"Kolcz","year":"2005","journal-title":"Cell Mol Biol Lett"},{"key":"S1047951117002001_ref4","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.84"},{"key":"S1047951117002001_ref32","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026443"},{"key":"S1047951117002001_ref10","doi-asserted-by":"publisher","DOI":"10.1086\/346090"},{"key":"S1047951117002001_ref16","unstructured":"http:\/\/ browser.1000genomes.org\/."},{"key":"S1047951117002001_ref33","doi-asserted-by":"publisher","DOI":"10.12659\/MSM.894568"},{"key":"S1047951117002001_ref23","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.77.4.369"},{"key":"S1047951117002001_ref35","doi-asserted-by":"publisher","DOI":"10.1038\/nature09753"},{"key":"S1047951117002001_ref34","doi-asserted-by":"publisher","DOI":"10.1016\/j.mgene.2013.09.009"},{"key":"S1047951117002001_ref37","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2011.564"},{"key":"S1047951117002001_ref2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"S1047951117002001_ref28","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-6363(01)00286-3"},{"key":"S1047951117002001_ref14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199505183322002"},{"key":"S1047951117002001_ref17","unstructured":"http:\/\/www.ensembl.org\/."},{"key":"S1047951117002001_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2013.12.003"},{"key":"S1047951117002001_ref5","doi-asserted-by":"publisher","DOI":"10.1126\/science.281.5373.108"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951117002001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T10:32:21Z","timestamp":1719657141000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951117002001\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,4]]},"references-count":38,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["S1047951117002001"],"URL":"https:\/\/doi.org\/10.1017\/s1047951117002001","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,4]]},"assertion":[{"value":"\u00a9 Cambridge University Press 2017\u00a0","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}