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Article: Interaction Between A Chromosome 10 Ret Enhancer And Chromosome 21 In The Down Syndrome-Hirschsprung Disease Association

TitleInteraction Between A Chromosome 10 Ret Enhancer And Chromosome 21 In The Down Syndrome-Hirschsprung Disease Association
Authors
Issue Date2009
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 2009, v. 30 n. 5, p. 771-775 How to Cite?
AbstractIndividuals With Down Syndrome (Ds) Display A 40-Fold Greater Risk Of Hirschsprung Disease (Hscr) Than The General Population Of Newborns Implicating Chromosome 21 In Hscr Etiology. Here We Demonstrate That The Ret Enhancer Polymorphism Ret 19.7 (Rs2435357:C>T) At Chromosome 10Q11.2 Is Associated With Hscr In Ds Individuals Both By Transmission Disequilibrium (P = 0.0015) And Case-Control (P = 0.0115) Analysis Of Matched Cases. Interestingly, The Ret19.7 T Allele Frequency Is Significantly Different Between Individuals With Ds Alone (0.26 ±0.04), Hscr Alone (0.61 ±0.04), And Those With Hscr And Ds (0.41 ± 0.04), Demonstrating An Association And Interaction Between Retand Chromosome 21 Gene Dosage. This Is The First Report Of A Genetic Interaction Between A Common Functional Variant (Rs2435357) And A Not Infrequent Copy Number Error (Chromosome 21 Dosage) In Two Human Developmental Disorders. © 2009 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/220851
ISSN
2015 Impact Factor: 5.089
2015 SCImago Journal Rankings: 3.670
ISI Accession Number ID
Funding AgencyGrant Number
U.S. National Institutes of HealthHD28088
HD38979
Holes for Hirschsprung fundraiser
Fondation Jerome Lejuene
Agence Nationale de la Recherche (HirGenet)
Funding Information:

We thank the numerous patients and their families that we have participated in our studies of HSCR and DS over the past 20 years. We acknowledge the work of Jennifer Scott, Maura Kenton, and Julie Muskett in family collection and the earlier genetic studies of Stacey (Bolk) Gabriel and Eileen Emison on DS and HSCR patients. This study was supported in part by grants from U.S. National Institutes of Health (HD28088 to A.C.; HD38979 to S.S.), the "Holes for Hirschsprung" fundraiser, the Fondation Jerome Lejuene, and the Agence Nationale de la Recherche (HirGenet).

References

 

DC FieldValueLanguage
dc.contributor.authorArnold, Sen_US
dc.contributor.authorPelet, Aen_US
dc.contributor.authorAmiel, Jen_US
dc.contributor.authorBorrego, Sen_US
dc.contributor.authorHofstra, Ren_US
dc.contributor.authorTam, PKHen_US
dc.contributor.authorCeccherini, Ien_US
dc.contributor.authorLyonnet, Sen_US
dc.contributor.authorSherman, Sen_US
dc.contributor.authorChakravarti, Aen_US
dc.date.accessioned2015-10-19T07:44:14Z-
dc.date.available2015-10-19T07:44:14Z-
dc.date.issued2009-
dc.identifier.citationHuman Mutation, 2009, v. 30 n. 5, p. 771-775en_US
dc.identifier.issn1059-7794-
dc.identifier.urihttp://hdl.handle.net/10722/220851-
dc.description.abstractIndividuals With Down Syndrome (Ds) Display A 40-Fold Greater Risk Of Hirschsprung Disease (Hscr) Than The General Population Of Newborns Implicating Chromosome 21 In Hscr Etiology. Here We Demonstrate That The Ret Enhancer Polymorphism Ret 19.7 (Rs2435357:C>T) At Chromosome 10Q11.2 Is Associated With Hscr In Ds Individuals Both By Transmission Disequilibrium (P = 0.0015) And Case-Control (P = 0.0115) Analysis Of Matched Cases. Interestingly, The Ret19.7 T Allele Frequency Is Significantly Different Between Individuals With Ds Alone (0.26 ±0.04), Hscr Alone (0.61 ±0.04), And Those With Hscr And Ds (0.41 ± 0.04), Demonstrating An Association And Interaction Between Retand Chromosome 21 Gene Dosage. This Is The First Report Of A Genetic Interaction Between A Common Functional Variant (Rs2435357) And A Not Infrequent Copy Number Error (Chromosome 21 Dosage) In Two Human Developmental Disorders. © 2009 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515en_US
dc.relation.ispartofHuman Mutationen_US
dc.titleInteraction Between A Chromosome 10 Ret Enhancer And Chromosome 21 In The Down Syndrome-Hirschsprung Disease Associationen_US
dc.typeArticleen_US
dc.identifier.emailTam, PKH:paultam@hkucc.hku.hk-
dc.identifier.authorityTam, PKH=rp00060-
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/humu.20944-
dc.identifier.pmid19306335-
dc.identifier.scopuseid_2-s2.0-66749168248-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-66749168248&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume30-
dc.identifier.issue5-
dc.identifier.spage771-
dc.identifier.epage775-
dc.identifier.isiWOS:000265803900008-

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