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Province","award":["KJ2019ZD32"],"award-info":[{"award-number":["KJ2019ZD32"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>Atrial septal defect (ASD) is one of the most common forms of congenital heart disease (CHD). Genetic variants in the coding region of the CITED2 gene are known to be significantly correlated with CHD, but the role of variants in the promoter region of CITED2 is unknown. We investigated variants in the promoter of the CITED2 gene in 625 subjects (332 ASD and 293 healthy controls) through Sanger sequencing. Four variants in the CITED2 gene promoter were found only in eight ASD patients with zero occurrence in the control subjects (one case of g.4078A&gt;C(rs1165649373), one case of g.4240C&gt;A(rs1235857801), four cases of g.4935C&gt;T(rs111470468), two cases of g.5027C&gt;T(rs112831934)). Cellular functional analysis showed that these four variants significantly changed the transcriptional activity of the CITED2 gene promoter in HEK-293 and HL-1 cells. Electrophoretic mobility change assay results and JASPAR database analysis demonstrated that these variants created or destroyed a series of possible transcription factor binding sites, resulting in changes in the expression of CITED2 protein. We conclude that the variants of CITED2 promoter in ASD patients affect the transcriptional activity and are likely involved in the occurrence and development of ASD. These findings provide new perspectives on the pathogenesis and potential therapeutic insights of ASD.<\/jats:p>","DOI":"10.3390\/jcdd9100321","type":"journal-article","created":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T04:07:07Z","timestamp":1663906027000},"page":"321","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic Variants of CITED2 Gene Promoter in Human Atrial Septal Defects: Case-Control Study and Cellular Functional Verification"],"prefix":"10.3390","volume":"9","author":[{"given":"Zhuo","family":"Chen","sequence":"first","affiliation":[{"name":"School of Pharmacy, Drug Research & Development Center, Wannan Medical College, Wuhu, Anhui 241002, China and The Institute of Cardiovascular Diseases, TEDA International Cardiovascular Hospital, Tianjin University & Chinese Academy of Medical Sciences, Tianjin 300457, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huan-Xin","family":"Chen","sequence":"additional","affiliation":[{"name":"The Institute of Cardiovascular Diseases and Department Cardiovascular Surgery, TEDA International Cardiovascular Hospital, Tianjin University and Chinese Academy of Medical Sciences, Tianjin 300457, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai-Tao","family":"Hou","sequence":"additional","affiliation":[{"name":"The Institute of Cardiovascular Diseases and Department Cardiovascular Surgery, TEDA International Cardiovascular Hospital, Tianjin University and Chinese Academy of Medical Sciences, Tianjin 300457, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiu-Yun","family":"Yin","sequence":"additional","affiliation":[{"name":"School of Pharmacy, Drug Research & Development Center, Wannan Medical College, Wuhu, Anhui 241002, China and The Institute of Cardiovascular Diseases, TEDA International Cardiovascular Hospital, Tianjin University & Chinese Academy of Medical Sciences, Tianjin 300457, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Yang","sequence":"additional","affiliation":[{"name":"The Institute of Cardiovascular Diseases and Department Cardiovascular Surgery, TEDA International Cardiovascular Hospital, Tianjin University and Chinese Academy of Medical Sciences, Tianjin 300457, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5192-3433","authenticated-orcid":false,"given":"Jun","family":"Han","sequence":"additional","affiliation":[{"name":"School of Pharmacy, Drug Research & Development Center, Wannan Medical College, Wuhu, Anhui 241002, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6497-876X","authenticated-orcid":false,"given":"Guo-Wei","family":"He","sequence":"additional","affiliation":[{"name":"School of Pharmacy, Drug Research & Development Center, Wannan Medical College, Wuhu, Anhui 241002, China and The Institute of Cardiovascular Diseases, TEDA International Cardiovascular Hospital, Tianjin University & Chinese Academy of Medical Sciences, Tianjin 300457, China"},{"name":"The Institute of Cardiovascular Diseases and Department Cardiovascular Surgery, TEDA International Cardiovascular Hospital, Tianjin University and Chinese Academy of Medical Sciences, Tianjin 300457, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.jacc.2011.08.025","article-title":"Birth prevalence of congenital heart disease worldwide: A systematic review and meta-analysis","volume":"58","author":"Konings","year":"2011","journal-title":"J. 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