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- Publisher Website: 10.1002/humu.20944
- Scopus: eid_2-s2.0-66749168248
- PMID: 19306335
- WOS: WOS:000265803900008
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Article: Interaction Between A Chromosome 10 Ret Enhancer And Chromosome 21 In The Down Syndrome-Hirschsprung Disease Association
| Title | Interaction Between A Chromosome 10 Ret Enhancer And Chromosome 21 In The Down Syndrome-Hirschsprung Disease Association | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Authors | |||||||||||
| Keywords | Complex disorder Down syndrome Gene dosage Hirschsprung disease RET | ||||||||||
| Issue Date | 2009 | ||||||||||
| Publisher | John 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? | ||||||||||
| Abstract | Individuals 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 Identifier | http://hdl.handle.net/10722/220851 | ||||||||||
| ISSN | 2023 Impact Factor: 3.3 2023 SCImago Journal Rankings: 1.686 | ||||||||||
| ISI Accession Number ID |
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 Field | Value | Language |
|---|---|---|
| dc.contributor.author | Arnold, S | en_US |
| dc.contributor.author | Pelet, A | en_US |
| dc.contributor.author | Amiel, J | en_US |
| dc.contributor.author | Borrego, S | en_US |
| dc.contributor.author | Hofstra, R | en_US |
| dc.contributor.author | Tam, PKH | en_US |
| dc.contributor.author | Ceccherini, I | en_US |
| dc.contributor.author | Lyonnet, S | en_US |
| dc.contributor.author | Sherman, S | en_US |
| dc.contributor.author | Chakravarti, A | en_US |
| dc.date.accessioned | 2015-10-19T07:44:14Z | - |
| dc.date.available | 2015-10-19T07:44:14Z | - |
| dc.date.issued | 2009 | - |
| dc.identifier.citation | Human Mutation, 2009, v. 30 n. 5, p. 771-775 | en_US |
| dc.identifier.issn | 1059-7794 | - |
| dc.identifier.uri | http://hdl.handle.net/10722/220851 | - |
| dc.description.abstract | Individuals 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.language | eng | en_US |
| dc.publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515 | en_US |
| dc.relation.ispartof | Human Mutation | en_US |
| dc.subject | Complex disorder | - |
| dc.subject | Down syndrome | - |
| dc.subject | Gene dosage | - |
| dc.subject | Hirschsprung disease | - |
| dc.subject | RET | - |
| dc.title | Interaction Between A Chromosome 10 Ret Enhancer And Chromosome 21 In The Down Syndrome-Hirschsprung Disease Association | en_US |
| dc.type | Article | en_US |
| dc.identifier.email | Tam, PKH:paultam@hkucc.hku.hk | - |
| dc.identifier.authority | Tam, PKH=rp00060 | - |
| dc.description.nature | link_to_subscribed_fulltext | en_US |
| dc.identifier.doi | 10.1002/humu.20944 | - |
| dc.identifier.pmid | 19306335 | - |
| dc.identifier.scopus | eid_2-s2.0-66749168248 | - |
| dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-66749168248&selection=ref&src=s&origin=recordpage | en_US |
| dc.identifier.volume | 30 | - |
| dc.identifier.issue | 5 | - |
| dc.identifier.spage | 771 | - |
| dc.identifier.epage | 775 | - |
| dc.identifier.isi | WOS:000265803900008 | - |
| dc.identifier.issnl | 1059-7794 | - |