{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["3(2)"],"submitter":["Gehlen J"],"pubmed_abstract":["Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene <i>CTNNA3</i> (p = 2.11 × 10<sup>-8</sup>; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10-5.00), on chromosome 16q24 next to the <i>FOX</i> gene cluster (p = 2.25 × 10<sup>-10</sup>; OR = 1.47; 95% CI, 1.38-1.55) and on chromosome 17q12 next to the gene <i>HNF1B</i> (p = 3.35 × 10<sup>-16</sup>; OR = 1.75; 95% CI, 1.64-1.87). We next carried out an e"],"journal":["HGG advances"],"pagination":["100093"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8844277"],"repository":["biostudies-literature"],"pubmed_title":["First genome-wide association study of esophageal atresia identifies three genetic risk loci at <i>CTNNA3</i>, <i>FOXF1</i>/<i>FOXC2</i>/<i>FOXL1</i>, and <i>HNF1B</i>."],"pmcid":["PMC8844277"],"pubmed_authors":["Ludwig KU","Muensterer OJ","Brosens E","Oracz G","Ludwikowski B","Kierkus J","Ure B","Nothen MM","de Blaauw I","Zhang R","Blass G","Herrmann BG","Kolodziejczyk E","Grote P","Stenstrom P","Patkowski D","Hess T","Czkwianianc E","Leutner A","Trautmann J","Burgos CM","Schumacher J","Seitz G","van Rooij IA","Hubertus J","Zwink N","Debek W","Renziehausen F","Lebensztejn DM","Alsabeah K","Ludwig M","Arnbjornsson E","Kolejwa M","Mokrowiecka A","Hoyer PD","Moebus S","Kollges R","Heilmann-Heimbach S","Nordenskjold A","Lacher M","Trcka J","Roeleveld N","Socha-Banasiak A","Reinshagen K","de Klein A","Giel AS","Azodi S","Vlot J","Melissari MT","Boemers TM","Jenetzky E","Thiele H","Piaseczna-Piotrowska A","Spychalski N","Degenhardt P","Smigiel R","Kalicinski P","Pennimpede T","Gosemann JH","Knapp M","Sungur AO","Mangold E","Landen M","Hilger AC","Haas SL","Fundin B","Jung D","Pauly M","Lilja HE","Bulik CM","Reutter H","Spaander MCW","Niethammer J","Bornholdt D","Marks M","Aubert O","Wohr M","Baumgarten M","Malecka-Panas E","Fuchs J","Kozera K","Gehlen J","Stefanowicz M","Holscher A","Frybova B","Heydweiller A","Tibboel D","Rygl M"],"additional_accession":[]},"is_claimable":false,"name":"First genome-wide association study of esophageal atresia identifies three genetic risk loci at <i>CTNNA3</i>, <i>FOXF1</i>/<i>FOXC2</i>/<i>FOXL1</i>, and <i>HNF1B</i>.","description":"Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene <i>CTNNA3</i> (p = 2.11 × 10<sup>-8</sup>; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10-5.00), on chromosome 16q24 next to the <i>FOX</i> gene cluster (p = 2.25 × 10<sup>-10</sup>; OR = 1.47; 95% CI, 1.38-1.55) and on chromosome 17q12 next to the gene <i>HNF1B</i> (p = 3.35 × 10<sup>-16</sup>; OR = 1.75; 95% CI, 1.64-1.87). We next carried out an e","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2026-05-31T07:04:26.841Z","creation":"2025-04-20T00:20:09.595Z"},"accession":"S-EPMC8844277","cross_references":{"pubmed":["35199045"],"doi":["10.1016/j.xhgg.2022.100093"]}}