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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 14351naa a2201489 4500 | |
| 001 | oai:gup.ub.gu.se/314443 | |
| 003 | SwePub | |
| 008 | 240528s2022 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:uu-474466 | |
| 009 | oai:prod.swepub.kib.ki.se:235199045 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/3144432 URI |
| 024 | 7 | a https://doi.org/10.1016/j.xhgg.2022.1000932 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4744662 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:2351990452 URI |
| 040 | a (SwePub)gud (SwePub)uud (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Gehlen, J.u Univ Hosp Marburg, Inst Human Genet, Marburg, Germany.4 aut |
| 245 | 1 0 | a First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B |
| 264 | 1 | b Elsevier BV,c 2022 |
| 520 | a 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 CTNNA3 (p = 2.11 × 10−8; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10–5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 × 10−10; OR = 1.47; 95% CI, 1.38–1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 × 10−16; OR = 1.75; 95% CI, 1.64–1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% ± 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes. © 2022 The Authors | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a CTNNA3 | |
| 653 | a esophageal atresia (EA) | |
| 653 | a FOXF1/FOXC2/FOXL1 | |
| 653 | a genome-wide association study (GWAS) | |
| 653 | a HNF1B | |
| 653 | a multifactorial diseases | |
| 700 | 1 | a Giel, A. S.u Univ Hosp Marburg, Inst Human Genet, Marburg, Germany.,Karolinska Univ, Perioperat Med & Intens Care, Stockholm, Sweden.4 aut |
| 700 | 1 | a Köllges, R.u Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.;Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn, Germany.4 aut |
| 700 | 1 | a Haas, S. L.u Karolinska Univ Hosp, Dept Upper GI Dis, Stockholm, Sweden.;Karolinska Inst, Unit Gastroenterol & Rheumatol, Stockholm, Sweden.4 aut |
| 700 | 1 | a Zhang, R.u Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.;Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn, Germany.4 aut |
| 700 | 1 | a Trcka, J.u Charles Univ Prague, Dept Paediat Surg, Fac Med 2, Prague, Czech Republic.;Motol Univ Hosp, Prague, Czech Republic.4 aut |
| 700 | 1 | a Sungur, A. Öu Univ Marburg, Behav Neurosci Expt & Biol Psychol, Marburg, Germany.,Univ Leipzig, Dept Pediat Surg, Leipzig, Germany.4 aut |
| 700 | 1 | a Renziehausen, F.u Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.;Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn, Germany.4 aut |
| 700 | 1 | a Bornholdt, D.u Univ Hosp Marburg, Inst Human Genet, Marburg, Germany.4 aut |
| 700 | 1 | a Jung, D.u Univ Hosp Marburg, Inst Human Genet, Marburg, Germany.;Univ Childrens Hosp, Dept Pediat Surg, Marburg, Germany.4 aut |
| 700 | 1 | a Hoyer, P. D.u Univ Childrens Hosp, Dept Pediat Surg, Marburg, Germany.,Wroclaw Med Univ, Dept Pediat Surg & Urol, Wroclaw, Poland.,Ernst von Bergmann Hosp, Dept Pediat Surg, Potsdam, Germany.4 aut |
| 700 | 1 | a Nordenskjöld, A.u Karolinska Institutet4 aut |
| 700 | 1 | a Tibboel, D.u Sophia Childrens Univ Hosp, Dept Pediat Surg & Intens Care, Erasmus Med Ctr, Rotterdam, Netherlands.4 aut |
| 700 | 1 | a Vlot, J.u Sophia Childrens Univ Hosp, Dept Pediat Surg & Intens Care, Erasmus Med Ctr, Rotterdam, Netherlands.4 aut |
| 700 | 1 | a Spaander, M. C. W.u Erasmus MC, Dept Gastroenterol & Hepatol, Rotterdam, Netherlands.,RWTH Aachen Univ Clin, Sect Neurobiol Res, Clin Neurol, Aachen, Germany.;Rhein Westfal TH Aachen, Inst Biol 2, Dept Neurobiol Res, Aachen, Germany.,Univ Marburg, Behav Neurosci Expt & Biol Psychol, Marburg, Germany.;Philipps Univ Marburg, Ctr Mind Brain & Behav, Marburg, Germany.;Social & Affect Neurosci Res Grp, Lab Biol Psychol, Res Unit Brain & Cognit, Fac Psychol & Educ Sci, Leuven, Belgium.;Katholieke Univ Leuven, Leuven Brain Inst, Leuven, Belgium.4 aut |
| 700 | 1 | a Smigiel, R.u Wroclaw Med Univ, Dept Pediat, Div Pediat & Rare Disorders, Wroclaw, Poland.4 aut |
| 700 | 1 | a Patkowski, D.4 aut |
| 700 | 1 | a Roeleveld, N.u Radboudumc, Dept Hlth Evidence, Radboud Inst Hlth Sci, Nijmegen, Netherlands.4 aut |
| 700 | 1 | a van Rooij, I. A.u Radboudumc, Dept Hlth Evidence, Radboud Inst Hlth Sci, Nijmegen, Netherlands.4 aut |
| 700 | 1 | a de Blaauw, I.u Radboudumc Amalia Childrens Hosp, Dept Surg, Pediat Surg, Nijmegen, Netherlands.4 aut |
| 700 | 1 | a Hölscher, A.u Univ Hosp Cologne, Dept Pediat Surg & Urol, Cologne, Germany.4 aut |
| 700 | 1 | a Pauly, M.u Asklepios Childrens Hosp St Augustin, Dept Pediat Surg, St Augustin, Germany.4 aut |
| 700 | 1 | a Leutner, A.u Med Ctr Dortmund, Dept Pediat Surg, Dortmund, Germany.4 aut |
| 700 | 1 | a Fuchs, J.u Univ Tubingen, Dept Pediat Surg, Childrens Hosp, Tubingen, Germany.4 aut |
| 700 | 1 | a Niethammer, J.u Univ Tubingen, Dept Pediat Surg, Childrens Hosp, Tubingen, Germany.4 aut |
| 700 | 1 | a Melissari, M. T.u Goethe Univ Frankfurt, Ctr Mol Med, Inst Cardiovasc Regenerat, Frankfurt, Germany.,Univ Hosp Cologne, Dept Pediat Surg & Urol, Cologne, Germany.4 aut |
| 700 | 1 | a Jenetzky, E.u Univ Witten Herdecke, Fac Hlth, Sch Med, Witten, Germany.;Johannes Gutenberg Univ Mainz, Dept Child & Adolescent Psychiat & Psychotherapy, Univ Med Ctr, Mainz, Germany.4 aut |
| 700 | 1 | a Zwink, N.u Johannes Gutenberg Univ Mainz, Dept Child & Adolescent Psychiat & Psychotherapy, Univ Med Ctr, Mainz, Germany.4 aut |
| 700 | 1 | a Thiele, H.u Univ Cologne, Cologne Ctr Genom, Cologne, Germany.4 aut |
| 700 | 1 | a Hilger, A. C.u Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.;Univ Hosp Bonn, Childrens Hosp, Dept Pediat, Bonn, Germany.4 aut |
| 700 | 1 | a Hess, T.u Univ Hosp Marburg, Inst Human Genet, Marburg, Germany.4 aut |
| 700 | 1 | a Trautmann, J.u Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.;Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn, Germany.4 aut |
| 700 | 1 | a Marks, M.u Karolinska Institutet4 aut |
| 700 | 1 | a Baumgarten, M.u Univ Hosp Marburg, Inst Human Genet, Marburg, Germany.4 aut |
| 700 | 1 | a Bläss, G.u Max Planck Inst Mol Genet, Dept Dev Genet, Berlin, Germany.4 aut |
| 700 | 1 | a Landén, Mikael,d 1966u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.;Univ Gothenburg, Inst Neurosci & Physiol, Dept Psychiat & Neurochem, Sahlgrenska Acad, Gothenburg, Sweden.4 aut0 (Swepub:gu)xlandt |
| 700 | 1 | a Fundin, B.u Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.4 aut |
| 700 | 1 | a Bulik, C. M.4 aut |
| 700 | 1 | a Pennimpede, T.u Max Planck Inst Mol Genet, Dept Dev Genet, Berlin, Germany.;Queens Univ, Div Canc Biol & Genet, Kingston, ON, Canada.4 aut |
| 700 | 1 | a Ludwig, M.u Univ Bonn, Dept Clin Chem & Clin Pharmacol, Bonn, Germany.4 aut |
| 700 | 1 | a Ludwig, K. U.u Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.;Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn, Germany.,Childrens Mem Hlth Inst, Dept Gastroenterol Hepatol Feeding Disorders & Pe, Warsaw, Poland.4 aut |
| 700 | 1 | a Mangold, E.u Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.4 aut |
| 700 | 1 | a Heilmann-Heimbach, S.u Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.;Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn, Germany.4 aut |
| 700 | 1 | a Moebus, S.u Univ Duisburg Essen, Univ Hosp Essen, Inst Urban Publ Hlth, Essen, Germany.4 aut |
| 700 | 1 | a Herrmann, B. G.u Max Planck Inst Mol Genet, Dept Dev Genet, Berlin, Germany.4 aut |
| 700 | 1 | a Alsabeah, K.u Karolinska Univ Hosp, Dept Upper GI Dis, Stockholm, Sweden.;Karolinska Inst, Unit Gastroenterol & Rheumatol, Stockholm, Sweden.4 aut |
| 700 | 1 | a Burgos, C. M.4 aut |
| 700 | 1 | a Engstrand Lilja, Helene,d 1963-u Uppsala universitet,Barnkirurgisk forskning4 aut0 (Swepub:uu)helelilj |
| 700 | 1 | a Azodi, S.4 aut |
| 700 | 1 | a Stenström, P.u Skane Univ Hosp, Dept Pediat Surg, Lund, Sweden.4 aut |
| 700 | 1 | a Arnbjörnsson, E.u Skane Univ Hosp, Dept Pediat Surg, Lund, Sweden.4 aut |
| 700 | 1 | a Frybova, B.u Charles Univ Prague, Dept Paediat Surg, Fac Med 2, Prague, Czech Republic.;Motol Univ Hosp, Prague, Czech Republic.4 aut |
| 700 | 1 | a Lebensztejn, D. M.4 aut |
| 700 | 1 | a Debek, W.u Med Univ Bialystok, Dept Pediat Surg & Urol, Bialystok, Poland.4 aut |
| 700 | 1 | a Kolodziejczyk, E.u Childrens Mem Hlth Inst, Dept Gastroenterol Hepatol Feeding Disorders & Pe, Warsaw, Poland.4 aut |
| 700 | 1 | a Kozera, K.4 aut |
| 700 | 1 | a Kierkus, J.u Childrens Mem Hlth Inst, Dept Gastroenterol Hepatol Feeding Disorders & Pe, Warsaw, Poland.4 aut |
| 700 | 1 | a Kaliciński, P.u Polish Mothers Mem Hosp Res Inst, Gastroenterol Allergol & Pediat Dept, Lodz, Poland.4 aut |
| 700 | 1 | a Stefanowicz, M.4 aut |
| 700 | 1 | a Socha-Banasiak, A.u Polish Mothers Mem Hosp Res Inst, Gastroenterol Allergol & Pediat Dept, Lodz, Poland.4 aut |
| 700 | 1 | a Kolejwa, M.u Polish Mothers Mem Hosp Res Inst, Gastroenterol Allergol & Pediat Dept, Lodz, Poland.4 aut |
| 700 | 1 | a Piaseczna-Piotrowska, A.u Childrens Mem Hlth Inst, Dept Pediat Surg Urol & Transplantol, Warsaw, Poland.4 aut |
| 700 | 1 | a Czkwianianc, E.u Polish Mothers Mem Hosp Res Inst, Gastroenterol Allergol & Pediat Dept, Lodz, Poland.4 aut |
| 700 | 1 | a Nöthen, M. M.4 aut |
| 700 | 1 | a Grote, P.u Goethe Univ Frankfurt, Ctr Mol Med, Inst Cardiovasc Regenerat, Frankfurt, Germany.4 aut |
| 700 | 1 | a Rygl, M.u Charles Univ Prague, Dept Paediat Surg, Fac Med 2, Prague, Czech Republic.;Motol Univ Hosp, Prague, Czech Republic.4 aut |
| 700 | 1 | a Reinshagen, K.u Univ Med Ctr Hamburg Eppendorf, Dept Pediat Surg, Hamburg, Germany.4 aut |
| 700 | 1 | a Spychalski, N.u Cnopfsche Kinderklin, Dept Pediat Surg & Urol, Nurnberg, Germany.4 aut |
| 700 | 1 | a Ludwikowski, B.u Med Ctr Children & Adolescents 8AUF BULT, Dept Pediat Surg & Pediat Urol, Hannover, Germany.4 aut |
| 700 | 1 | a Hubertus, J.u Ruhr Univ Bochum, Marien Hosp Witten, Dept Pediat Surg, Bochum, Germany.4 aut |
| 700 | 1 | a Heydweiller, A.u Univ Hosp Bonn, Dept Pediat Surg, Bonn, Germany.4 aut |
| 700 | 1 | a Ure, B.u Hannover Med Sch, Ctr Pediat Surg Hannover, Hannover, Germany.4 aut |
| 700 | 1 | a Muensterer, O. J.u Univ Med Mainz, Dept Pediat Surg, Mainz, Germany.;Ludwig Maximilians Univ LMU Munich, Dept Pediat Surg, Dr von Haunersches Kinderspital, Munich, Germany.4 aut |
| 700 | 1 | a Aubert, O.4 aut |
| 700 | 1 | a Gosemann, J. H.u Univ Leipzig, Dept Pediat Surg, Leipzig, Germany.4 aut |
| 700 | 1 | a Lacher, M.u Univ Leipzig, Dept Pediat Surg, Leipzig, Germany.4 aut |
| 700 | 1 | a Degenhardt, P.4 aut |
| 700 | 1 | a Boemers, T. M.4 aut |
| 700 | 1 | a Mokrowiecka, A.u Med Univ Lodz, Dept Digest Tract Dis, Lodz, Poland.4 aut |
| 700 | 1 | a Małecka-Panas, E.u Med Univ Lodz, Dept Digest Tract Dis, Lodz, Poland.4 aut |
| 700 | 1 | a Wöhr, M.4 aut |
| 700 | 1 | a Knapp, M.u Univ Bonn, Inst Med Biometry Informat & Epidemiol, Bonn, Germany.4 aut |
| 700 | 1 | a Seitz, G.u Univ Childrens Hosp, Dept Pediat Surg, Marburg, Germany.4 aut |
| 700 | 1 | a de Klein, A.u Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands.4 aut |
| 700 | 1 | a Oracz, G.u Childrens Mem Hlth Inst, Dept Gastroenterol Hepatol Feeding Disorders & Pe, Warsaw, Poland.4 aut |
| 700 | 1 | a Brosens, E.u Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands.4 aut |
| 700 | 1 | a Reutter, H.u Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.;Univ Hosp, Dept Pediat & Adolescent Med, Div Neonatol & Pediat Intens Care, Erlangen, Germany.4 aut |
| 700 | 1 | a Schumacher, J.u Univ Hosp Marburg, Inst Human Genet, Marburg, Germany.;Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Bonn, Germany.4 aut |
| 710 | 2 | a Univ Hosp Marburg, Inst Human Genet, Marburg, Germany.b Karolinska Univ, Perioperat Med & Intens Care, Stockholm, Sweden.4 org |
| 773 | 0 | t Human Genetics and Genomics Advancesd : Elsevier BVg 3:2q 3:2x 2666-2477 |
| 856 | 4 | u https://doi.org/10.1016/j.xhgg.2022.100093 |
| 856 | 4 | u https://doi.org/10.1016/j.xhgg.2022.100093y Fulltext |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1658287/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/314443 |
| 856 | 4 8 | u https://doi.org/10.1016/j.xhgg.2022.100093 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-474466 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:235199045 |
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- Jenetzky, E.
- Zwink, N.
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