Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia
Identifieur interne : 000098 ( Pmc/Curation ); précédent : 000097; suivant : 000099Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia
Auteurs : E. Ellinghaus [Allemagne] ; M. Stanulla [Allemagne] ; G. Richter [Allemagne] ; D. Ellinghaus [Allemagne] ; G. Te Kronnie [Italie] ; G. Cario [Allemagne] ; G. Cazzaniga [Italie] ; M. Horstmann [Allemagne] ; R. Panzer Grümayer [Autriche] ; H. Cavé [France] ; J. Trka [République tchèque] ; O. Cinek [République tchèque] ; A. Teigler-Schlegel [Allemagne] ; A. Elsharawy [Allemagne] ; R. H Sler [Allemagne] ; A. Nebel [Allemagne] ; B. Meissner [Allemagne] ; T. Bartram [Allemagne] ; F. Lescai [Royaume-Uni] ; C. Franceschi [Italie] ; M. Giordan [Italie] ; P. Nürnberg [Allemagne] ; B. Heinzow [Allemagne, Australie] ; M. Zimmermann [Allemagne] ; S. Schreiber [Allemagne] ; M. Schrappe [Allemagne] ; A. Franke [Allemagne]Source :
- Leukemia [ 0887-6924 ] ; 2011.
Abstract
Acute lymphoblastic leukemia (ALL) is a malignant disease of the white blood cells. The etiology of ALL is believed to be multifactorial and likely to involve an interplay of environmental and genetic variables. We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12;21)(p13;q22) — the most common chromosomal translocation observed in childhood ALL — which leads to an
Url:
DOI: 10.1038/leu.2011.302
PubMed: 22076464
PubMed Central: 3356560
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of germline susceptibility loci in <italic>ETV6</italic>
-<italic>RUNX1</italic>
-rearranged childhood acute lymphoblastic leukemia</title>
<author><name sortKey="Ellinghaus, E" sort="Ellinghaus, E" uniqKey="Ellinghaus E" first="E" last="Ellinghaus">E. Ellinghaus</name>
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</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Stanulla, M" sort="Stanulla, M" uniqKey="Stanulla M" first="M" last="Stanulla">M. Stanulla</name>
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, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Richter, G" sort="Richter, G" uniqKey="Richter G" first="G" last="Richter">G. Richter</name>
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</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Ellinghaus, D" sort="Ellinghaus, D" uniqKey="Ellinghaus D" first="D" last="Ellinghaus">D. Ellinghaus</name>
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, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Te Kronnie, G" sort="Te Kronnie, G" uniqKey="Te Kronnie G" first="G" last="Te Kronnie">G. Te Kronnie</name>
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, Padua,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Cario, G" sort="Cario, G" uniqKey="Cario G" first="G" last="Cario">G. Cario</name>
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, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Cazzaniga, G" sort="Cazzaniga, G" uniqKey="Cazzaniga G" first="G" last="Cazzaniga">G. Cazzaniga</name>
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, Monza,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Horstmann, M" sort="Horstmann, M" uniqKey="Horstmann M" first="M" last="Horstmann">M. Horstmann</name>
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, Hamburg,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Panzer Grumayer, R" sort="Panzer Grumayer, R" uniqKey="Panzer Grumayer R" first="R" last="Panzer Grümayer">R. Panzer Grümayer</name>
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, Vienna,<country>Austria</country>
</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Cave, H" sort="Cave, H" uniqKey="Cave H" first="H" last="Cavé">H. Cavé</name>
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, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Trka, J" sort="Trka, J" uniqKey="Trka J" first="J" last="Trka">J. Trka</name>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Department of Pediatric Hematology/Oncology, Second Faculty of Medicine, Charles University Prague</institution>
, Prague,<country>Czech Republic</country>
</nlm:aff>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cinek, O" sort="Cinek, O" uniqKey="Cinek O" first="O" last="Cinek">O. Cinek</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Pediatrics, Second Faculty of Medicine, Charles University Prague</institution>
, Prague,<country>Czech Republic</country>
</nlm:aff>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Teigler Schlegel, A" sort="Teigler Schlegel, A" uniqKey="Teigler Schlegel A" first="A" last="Teigler-Schlegel">A. Teigler-Schlegel</name>
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, Giessen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Elsharawy, A" sort="Elsharawy, A" uniqKey="Elsharawy A" first="A" last="Elsharawy">A. Elsharawy</name>
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, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="H Sler, R" sort="H Sler, R" uniqKey="H Sler R" first="R" last="H Sler">R. H Sler</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Nebel, A" sort="Nebel, A" uniqKey="Nebel A" first="A" last="Nebel">A. Nebel</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Meissner, B" sort="Meissner, B" uniqKey="Meissner B" first="B" last="Meissner">B. Meissner</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bartram, T" sort="Bartram, T" uniqKey="Bartram T" first="T" last="Bartram">T. Bartram</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lescai, F" sort="Lescai, F" uniqKey="Lescai F" first="F" last="Lescai">F. Lescai</name>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Division of Research Strategy, University College London</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Franceschi, C" sort="Franceschi, C" uniqKey="Franceschi C" first="C" last="Franceschi">C. Franceschi</name>
<affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Department of Experimental Pathology, University of Bologna</institution>
, Bologna,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Giordan, M" sort="Giordan, M" uniqKey="Giordan M" first="M" last="Giordan">M. Giordan</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Pediatrics, Laboratory of Pediatric Hematology/Oncology, University of Padua</institution>
, Padua,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nurnberg, P" sort="Nurnberg, P" uniqKey="Nurnberg P" first="P" last="Nürnberg">P. Nürnberg</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Cologne Center for Genomics, University of Cologne</institution>
, Cologne,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Heinzow, B" sort="Heinzow, B" uniqKey="Heinzow B" first="B" last="Heinzow">B. Heinzow</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>State Social Services Agency Schleswig-Holstein</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>University of Notre Dame, Sydney Medical School</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zimmermann, M" sort="Zimmermann, M" uniqKey="Zimmermann M" first="M" last="Zimmermann">M. Zimmermann</name>
<affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Pediatric Hematology and Oncology, Hannover Medical School</institution>
, Hannover,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schreiber, S" sort="Schreiber, S" uniqKey="Schreiber S" first="S" last="Schreiber">S. Schreiber</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Department of General Internal Medicine, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Popgen Biobank, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schrappe, M" sort="Schrappe, M" uniqKey="Schrappe M" first="M" last="Schrappe">M. Schrappe</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Franke, A" sort="Franke, A" uniqKey="Franke A" first="A" last="Franke">A. Franke</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Identification of germline susceptibility loci in <italic>ETV6</italic>
-<italic>RUNX1</italic>
-rearranged childhood acute lymphoblastic leukemia</title>
<author><name sortKey="Ellinghaus, E" sort="Ellinghaus, E" uniqKey="Ellinghaus E" first="E" last="Ellinghaus">E. Ellinghaus</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stanulla, M" sort="Stanulla, M" uniqKey="Stanulla M" first="M" last="Stanulla">M. Stanulla</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Richter, G" sort="Richter, G" uniqKey="Richter G" first="G" last="Richter">G. Richter</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ellinghaus, D" sort="Ellinghaus, D" uniqKey="Ellinghaus D" first="D" last="Ellinghaus">D. Ellinghaus</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Te Kronnie, G" sort="Te Kronnie, G" uniqKey="Te Kronnie G" first="G" last="Te Kronnie">G. Te Kronnie</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Pediatrics, Laboratory of Pediatric Hematology/Oncology, University of Padua</institution>
, Padua,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cario, G" sort="Cario, G" uniqKey="Cario G" first="G" last="Cario">G. Cario</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cazzaniga, G" sort="Cazzaniga, G" uniqKey="Cazzaniga G" first="G" last="Cazzaniga">G. Cazzaniga</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>M. Tettamanti Research Center, Children's Hospital, University of Milan-Bicocca</institution>
, Monza,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Horstmann, M" sort="Horstmann, M" uniqKey="Horstmann M" first="M" last="Horstmann">M. Horstmann</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Clinic of Pediatric Hematology and Oncology, University Medical Center, and Research Center Children's Cancer Center</institution>
, Hamburg,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Panzer Grumayer, R" sort="Panzer Grumayer, R" uniqKey="Panzer Grumayer R" first="R" last="Panzer Grümayer">R. Panzer Grümayer</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>St Anna Children's Hospital and Children's Cancer Research Institute</institution>
, Vienna,<country>Austria</country>
</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cave, H" sort="Cave, H" uniqKey="Cave H" first="H" last="Cavé">H. Cavé</name>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Genetics, Hôpital Robert Debré</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Trka, J" sort="Trka, J" uniqKey="Trka J" first="J" last="Trka">J. Trka</name>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Department of Pediatric Hematology/Oncology, Second Faculty of Medicine, Charles University Prague</institution>
, Prague,<country>Czech Republic</country>
</nlm:aff>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cinek, O" sort="Cinek, O" uniqKey="Cinek O" first="O" last="Cinek">O. Cinek</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Pediatrics, Second Faculty of Medicine, Charles University Prague</institution>
, Prague,<country>Czech Republic</country>
</nlm:aff>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
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<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Oncogenetic Laboratory, Department of Pediatric Hematology and Oncology, Justus-Liebig-University</institution>
, Giessen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Elsharawy, A" sort="Elsharawy, A" uniqKey="Elsharawy A" first="A" last="Elsharawy">A. Elsharawy</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="H Sler, R" sort="H Sler, R" uniqKey="H Sler R" first="R" last="H Sler">R. H Sler</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
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, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
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<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
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<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
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<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Division of Research Strategy, University College London</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Department of Experimental Pathology, University of Bologna</institution>
, Bologna,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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, Padua,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
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<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Cologne Center for Genomics, University of Cologne</institution>
, Cologne,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
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<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>State Social Services Agency Schleswig-Holstein</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>University of Notre Dame, Sydney Medical School</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Pediatric Hematology and Oncology, Hannover Medical School</institution>
, Hannover,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schreiber, S" sort="Schreiber, S" uniqKey="Schreiber S" first="S" last="Schreiber">S. Schreiber</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Department of General Internal Medicine, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Popgen Biobank, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schrappe, M" sort="Schrappe, M" uniqKey="Schrappe M" first="M" last="Schrappe">M. Schrappe</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Franke, A" sort="Franke, A" uniqKey="Franke A" first="A" last="Franke">A. Franke</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Leukemia</title>
<idno type="ISSN">0887-6924</idno>
<idno type="eISSN">1476-5551</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Acute lymphoblastic leukemia (ALL) is a malignant disease of the white blood cells. The etiology of ALL is believed to be multifactorial and likely to involve an interplay of environmental and genetic variables. We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12;21)(p13;q22) — the most common chromosomal translocation observed in childhood ALL — which leads to an <italic>ETV6–RUNX1</italic>
gene fusion. The eight most strongly associated SNPs were followed-up in 951 <italic>ETV6-RUNX1</italic>
-positive cases and 3061 controls from Germany/Austria and Italy, respectively. We identified a novel, genome-wide significant risk locus at 3q28 (<italic>TP63</italic>
, rs17505102, <italic>P</italic>
<sub>CMH</sub>
=8.94 × 10<sup>−9</sup>
, OR=0.65). The separate analysis of the combined German/Austrian sample only, revealed additional genome-wide significant associations at 11q11 (<italic>OR8U8</italic>
, rs1945213, <italic>P</italic>
=9.14 × 10<sup>−11</sup>
, OR=0.69) and 8p21.3 (near <italic>INTS10</italic>
, rs920590, <italic>P</italic>
=6.12 × 10<sup>−9</sup>
, OR=1.36). These associations and another association at 11p11.2 (<italic>PTPRJ</italic>
, rs3942852, <italic>P</italic>
=4.95 × 10<sup>−7</sup>
, OR=0.72) remained significant in the German/Austrian replication panel after correction for multiple testing. Our findings demonstrate that germline genetic variation can specifically contribute to the risk of <italic>ETV6–RUNX1</italic>
-positive childhood ALL. The identification of <italic>TP63</italic>
and <italic>PTPRJ</italic>
as susceptibility genes emphasize the role of the <italic>TP53</italic>
gene family and the importance of proteins regulating cellular processes in connection with tumorigenesis.</p>
</div>
</front>
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<pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Leukemia</journal-id>
<journal-id journal-id-type="iso-abbrev">Leukemia</journal-id>
<journal-title-group><journal-title>Leukemia</journal-title>
</journal-title-group>
<issn pub-type="ppub">0887-6924</issn>
<issn pub-type="epub">1476-5551</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22076464</article-id>
<article-id pub-id-type="pmc">3356560</article-id>
<article-id pub-id-type="pii">leu2011302</article-id>
<article-id pub-id-type="doi">10.1038/leu.2011.302</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Identification of germline susceptibility loci in <italic>ETV6</italic>
-<italic>RUNX1</italic>
-rearranged childhood acute lymphoblastic leukemia</article-title>
<alt-title alt-title-type="running">Identification of risk loci in ALL subtype</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Ellinghaus</surname>
<given-names>E</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="author-notes" rid="note1"><sup>19</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stanulla</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="author-notes" rid="note1"><sup>19</sup>
</xref>
<xref ref-type="corresp" rid="caf2">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Richter</surname>
<given-names>G</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ellinghaus</surname>
<given-names>D</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>te Kronnie</surname>
<given-names>G</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cario</surname>
<given-names>G</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cazzaniga</surname>
<given-names>G</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Horstmann</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Panzer Grümayer</surname>
<given-names>R</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cavé</surname>
<given-names>H</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Trka</surname>
<given-names>J</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cinek</surname>
<given-names>O</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Teigler-Schlegel</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>ElSharawy</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Häsler</surname>
<given-names>R</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nebel</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Meissner</surname>
<given-names>B</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bartram</surname>
<given-names>T</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lescai</surname>
<given-names>F</given-names>
</name>
<xref ref-type="aff" rid="aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Franceschi</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="aff12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Giordan</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nürnberg</surname>
<given-names>P</given-names>
</name>
<xref ref-type="aff" rid="aff13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Heinzow</surname>
<given-names>B</given-names>
</name>
<xref ref-type="aff" rid="aff14">14</xref>
<xref ref-type="aff" rid="aff15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zimmermann</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="aff16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schreiber</surname>
<given-names>S</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff17">17</xref>
<xref ref-type="aff" rid="aff18">18</xref>
<xref ref-type="author-notes" rid="note1"><sup>19</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schrappe</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="author-notes" rid="note1"><sup>19</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Franke</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="author-notes" rid="note1"><sup>19</sup>
</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Kiel,<country>Germany</country>
,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution>
</aff>
<aff id="aff3"><label>3</label>
<institution>Department of Pediatrics, Laboratory of Pediatric Hematology/Oncology, University of Padua</institution>
, Padua,<country>Italy</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>M. Tettamanti Research Center, Children's Hospital, University of Milan-Bicocca</institution>
, Monza,<country>Italy</country>
</aff>
<aff id="aff5"><label>5</label>
<institution>Clinic of Pediatric Hematology and Oncology, University Medical Center, and Research Center Children's Cancer Center</institution>
, Hamburg,<country>Germany</country>
</aff>
<aff id="aff6"><label>6</label>
<institution>St Anna Children's Hospital and Children's Cancer Research Institute</institution>
, Vienna,<country>Austria</country>
</aff>
<aff id="aff7"><label>7</label>
<institution>Department of Genetics, Hôpital Robert Debré</institution>
, Paris,<country>France</country>
</aff>
<aff id="aff8"><label>8</label>
<institution>Department of Pediatric Hematology/Oncology, Second Faculty of Medicine, Charles University Prague</institution>
, Prague,<country>Czech Republic</country>
</aff>
<aff id="aff9"><label>9</label>
<institution>Department of Pediatrics, Second Faculty of Medicine, Charles University Prague</institution>
, Prague,<country>Czech Republic</country>
</aff>
<aff id="aff10"><label>10</label>
<institution>Oncogenetic Laboratory, Department of Pediatric Hematology and Oncology, Justus-Liebig-University</institution>
, Giessen,<country>Germany</country>
</aff>
<aff id="aff11"><label>11</label>
<institution>Division of Research Strategy, University College London</institution>
, London,<country>UK</country>
</aff>
<aff id="aff12"><label>12</label>
<institution>Department of Experimental Pathology, University of Bologna</institution>
, Bologna,<country>Italy</country>
</aff>
<aff id="aff13"><label>13</label>
<institution>Cologne Center for Genomics, University of Cologne</institution>
, Cologne,<country>Germany</country>
</aff>
<aff id="aff14"><label>14</label>
<institution>State Social Services Agency Schleswig-Holstein</institution>
, Kiel,<country>Germany</country>
</aff>
<aff id="aff15"><label>15</label>
<institution>University of Notre Dame, Sydney Medical School</institution>
, Sydney,<country>Australia</country>
</aff>
<aff id="aff16"><label>16</label>
<institution>Pediatric Hematology and Oncology, Hannover Medical School</institution>
, Hannover,<country>Germany</country>
</aff>
<aff id="aff17"><label>17</label>
<institution>Department of General Internal Medicine, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</aff>
<aff id="aff18"><label>18</label>
<institution>Popgen Biobank, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>
, Kiel,<country>Germany</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
<institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>
, Schittenhelmstr. 12, D-24105 Kiel, <country>Germany</country>
. E-mail: <email>a.franke@mucosa.de</email>
</corresp>
<corresp id="caf2"><label>*</label>
<institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>
, Arnold-Heller-Str. 3, D-24105 Kiel, <country>Germany</country>
. E-mail: <email>martin.stanulla@uk-sh.de</email>
</corresp>
<fn fn-type="present-address" id="note1"><label>19</label>
<p>These authors contributed equally to this work.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><month>05</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="epub"><day>11</day>
<month>11</month>
<year>2011</year>
</pub-date>
<volume>26</volume>
<issue>5</issue>
<fpage>902</fpage>
<lpage>909</lpage>
<history><date date-type="received"><day>09</day>
<month>06</month>
<year>2011</year>
</date>
<date date-type="rev-recd"><day>03</day>
<month>09</month>
<year>2011</year>
</date>
<date date-type="accepted"><day>21</day>
<month>09</month>
<year>2011</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2012 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2012</copyright-year>
<copyright-holder>Macmillan Publishers Limited</copyright-holder>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-nd/3.0/"><pmc-comment>author-paid</pmc-comment>
<license-p>This work is licensed under the Creative Commons Attribution-NonCommercial-No Derivative Works 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/</license-p>
</license>
</permissions>
<abstract><p>Acute lymphoblastic leukemia (ALL) is a malignant disease of the white blood cells. The etiology of ALL is believed to be multifactorial and likely to involve an interplay of environmental and genetic variables. We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12;21)(p13;q22) — the most common chromosomal translocation observed in childhood ALL — which leads to an <italic>ETV6–RUNX1</italic>
gene fusion. The eight most strongly associated SNPs were followed-up in 951 <italic>ETV6-RUNX1</italic>
-positive cases and 3061 controls from Germany/Austria and Italy, respectively. We identified a novel, genome-wide significant risk locus at 3q28 (<italic>TP63</italic>
, rs17505102, <italic>P</italic>
<sub>CMH</sub>
=8.94 × 10<sup>−9</sup>
, OR=0.65). The separate analysis of the combined German/Austrian sample only, revealed additional genome-wide significant associations at 11q11 (<italic>OR8U8</italic>
, rs1945213, <italic>P</italic>
=9.14 × 10<sup>−11</sup>
, OR=0.69) and 8p21.3 (near <italic>INTS10</italic>
, rs920590, <italic>P</italic>
=6.12 × 10<sup>−9</sup>
, OR=1.36). These associations and another association at 11p11.2 (<italic>PTPRJ</italic>
, rs3942852, <italic>P</italic>
=4.95 × 10<sup>−7</sup>
, OR=0.72) remained significant in the German/Austrian replication panel after correction for multiple testing. Our findings demonstrate that germline genetic variation can specifically contribute to the risk of <italic>ETV6–RUNX1</italic>
-positive childhood ALL. The identification of <italic>TP63</italic>
and <italic>PTPRJ</italic>
as susceptibility genes emphasize the role of the <italic>TP53</italic>
gene family and the importance of proteins regulating cellular processes in connection with tumorigenesis.</p>
</abstract>
<kwd-group><kwd>genome-wide association study</kwd>
<kwd>childhood acute lymphoblastic leukemia</kwd>
<kwd><italic>TP63</italic>
</kwd>
</kwd-group>
</article-meta>
</front>
<floats-group><fig id="fig1"><label>Figure 1</label>
<caption><p>Regional plots of the confirmed associations at <italic>TP63, OR8U8,</italic>
on 8p21.3 and at <italic>PTPRJ</italic>
. The regional plots of the negative decadic logarithm of the <italic>P</italic>
-values obtained in the GWAS (panel A) are shown. Panel A was imputed with CEU haplotypes generated by the 1000 Genomes Project (August 2010 release) as reference. For the central lead SNP of each plot, the combined <italic>P</italic>
-value of panels A and B (rs1945213, rs920590 and rs3942852) or panels A through C (rs17505102) is indicated. The magnitude of linkage disequilibrium (LD) with the central SNP measured by <italic>r</italic>
<sup>2</sup>
is reflected by the color of each SNP symbol (for color coding, see upper right corner of each plot). Recombination activity (in centimorgans (cM) per Mb) is depicted by a blue line. Positions are given as NCBI's build 36 coordinates. For details, see <xref rid="tbl1" ref-type="table">Table 1</xref>
.</p>
</caption>
<graphic xlink:href="leu2011302f1"></graphic>
</fig>
<table-wrap id="tbl1"><label>Table 1</label>
<caption><title>Summary of association results in combined replication panels B and C</title>
</caption>
<graphic xlink:href="leu2011302t1"></graphic>
</table-wrap>
<table-wrap id="tbl2"><label>Table 2</label>
<caption><title>Association results for known loci</title>
</caption>
<graphic xlink:href="leu2011302t2"></graphic>
</table-wrap>
</floats-group>
</pmc>
</record>
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