biostudies-literatureUnknown3(2)Gehlen JEsophageal 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^-8; 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^-10; OR = 1.47; 95% CI, 1.38-1.55) and on chromosome 17q12 next to the gene <i>HNF1B</i> (p = 3.35 × 10^-16; OR = 1.75; 95% CI, 1.64-1.87). We next carried out an eHGG advances100093https://www.ebi.ac.uk/biostudies/studies/S-EPMC8844277biostudies-literatureFirst 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>.PMC8844277Ludwig KUMuensterer OJBrosens EOracz GLudwikowski BKierkus JUre BNothen MMde Blaauw IZhang RBlass GHerrmann BGKolodziejczyk EGrote PStenstrom PPatkowski DHess TCzkwianianc ELeutner ATrautmann JBurgos CMSchumacher JSeitz Gvan Rooij IAHubertus JZwink NDebek WRenziehausen FLebensztejn DMAlsabeah KLudwig MArnbjornsson EKolejwa MMokrowiecka AHoyer PDMoebus SKollges RHeilmann-Heimbach SNordenskjold ALacher MTrcka JRoeleveld NSocha-Banasiak AReinshagen Kde Klein AGiel ASAzodi SVlot JMelissari MTBoemers TMJenetzky EThiele HPiaseczna-Piotrowska ASpychalski NDegenhardt PSmigiel RKalicinski PPennimpede TGosemann JHKnapp MSungur AOMangold ELanden MHilger ACHaas SLFundin BJung DPauly MLilja HEBulik CMReutter HSpaander MCWNiethammer JBornholdt DMarks MAubert OWohr MBaumgarten MMalecka-Panas EFuchs JKozera KGehlen JStefanowicz MHolscher AFrybova BHeydweiller ATibboel DRygl MfalseFirst 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>.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^-8; 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^-10; OR = 1.47; 95% CI, 1.38-1.55) and on chromosome 17q12 next to the gene <i>HNF1B</i> (p = 3.35 × 10^-16; OR = 1.75; 95% CI, 1.64-1.87). We next carried out an e2022-01-01T00:00:00Z2022 Apr2026-05-31T07:04:26.841Z2025-04-20T00:20:09.595ZS-EPMC88442773519904510.1016/j.xhgg.2022.100093