Article: Mapping of a Hirschsprung's disease locus in 3p21

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TitleMapping of a Hirschsprung's disease locus in 3p21
AuthorsGarciaBarceló, MM3
Fong, PY3
Tang, CS1
Miao, XP3
So, MT3
Yuan, ZW2
Li, L6
Guo, WH6
Liu, L5
Wang, B5
Sun, XB8
Huang, LM7
Tou, JF4
Wong, KKY3
Ngan, ESW3
Lui, VCH3
Cherny, SS1 3
Sham, PC1 3
Tam, PKH3
Issue Date2008
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
CitationEuropean Journal Of Human Genetics, 2008, v. 16 n. 7, p. 833-840 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ejhg.2008.18
AbstractHirschsprung's disease (HSCR) is a congenital disorder in which ganglion cells are absent in variable portions of the lower digestive tract according to which patients are classified. The RET gene is the major HSCR gene, although reduced penetrance of RET mutations and variable expression of HSCR phenotype indicates that more than one gene is required. An unidentified RET-dependent modifier on 3p21 appears to be necessary for transmission of the short HSCR (S-HSCR) phenotype. We investigated 6Mb of the 3p21 region on a quest for the HSCR-susceptibility locus. Fifty-eight S-HSCR case-parent trios were genotyped using Sequenom technology for 214 tag single nucleotide polymorphisms (SNPs) distributed along 6Mb of the 3p21 region. A five-marker haplotype, spanning a 118kb gene-rich region, was found to be overtransmitted to affected offspring. The associated haplotype encompasses three genes involved in neurological phenotypes. Importantly, this association was replicated in an independent sample of 172 S-HSCR cases and 153 unrelated controls. Ranking markers by proximity to candidate genes or by expected functional consequences could be used in follow-up studies to finally pinpoint this HSCR locus.
ISSN1018-4813
2011 Impact Factor: 4.4
2011 SCImago Journal Rankings: 0.459
DOIhttp://dx.doi.org/10.1038/ejhg.2008.18
ISI Accession Number IDWOS:000256857400010
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorGarciaBarceló, MM
dc.contributor.authorFong, PY
dc.contributor.authorTang, CS
dc.contributor.authorMiao, XP
dc.contributor.authorSo, MT
dc.contributor.authorYuan, ZW
dc.contributor.authorLi, L
dc.contributor.authorGuo, WH
dc.contributor.authorLiu, L
dc.contributor.authorWang, B
dc.contributor.authorSun, XB
dc.contributor.authorHuang, LM
dc.contributor.authorTou, JF
dc.contributor.authorWong, KKY
dc.contributor.authorNgan, ESW
dc.contributor.authorLui, VCH
dc.contributor.authorCherny, SS
dc.contributor.authorSham, PC
dc.contributor.authorTam, PKH
dc.date.accessioned2010-05-31T03:56:25Z
dc.date.available2010-05-31T03:56:25Z
dc.date.issued2008
dc.description.abstractHirschsprung's disease (HSCR) is a congenital disorder in which ganglion cells are absent in variable portions of the lower digestive tract according to which patients are classified. The RET gene is the major HSCR gene, although reduced penetrance of RET mutations and variable expression of HSCR phenotype indicates that more than one gene is required. An unidentified RET-dependent modifier on 3p21 appears to be necessary for transmission of the short HSCR (S-HSCR) phenotype. We investigated 6Mb of the 3p21 region on a quest for the HSCR-susceptibility locus. Fifty-eight S-HSCR case-parent trios were genotyped using Sequenom technology for 214 tag single nucleotide polymorphisms (SNPs) distributed along 6Mb of the 3p21 region. A five-marker haplotype, spanning a 118kb gene-rich region, was found to be overtransmitted to affected offspring. The associated haplotype encompasses three genes involved in neurological phenotypes. Importantly, this association was replicated in an independent sample of 172 S-HSCR cases and 153 unrelated controls. Ranking markers by proximity to candidate genes or by expected functional consequences could be used in follow-up studies to finally pinpoint this HSCR locus.
dc.description.naturelink_to_subscribed_fulltext
dc.identifier.citationEuropean Journal Of Human Genetics, 2008, v. 16 n. 7, p. 833-840 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ejhg.2008.18
dc.identifier.citeulike2406275
dc.identifier.doihttp://dx.doi.org/10.1038/ejhg.2008.18
dc.identifier.epage840
dc.identifier.hkuros144570
dc.identifier.isiWOS:000256857400010
dc.identifier.issn1018-4813
2011 Impact Factor: 4.4
2011 SCImago Journal Rankings: 0.459
dc.identifier.issue7
dc.identifier.openurl
dc.identifier.pmid18285831
dc.identifier.scopuseid_2-s2.0-45749144781
dc.identifier.spage833
dc.identifier.urihttp://hdl.handle.net/10722/59739
dc.identifier.volume16
dc.languageeng
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
dc.publisher.placeUnited Kingdom
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.referencesReferences in Scopus
dc.titleMapping of a Hirschsprung's disease locus in 3p21
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. China Medical University Shenyang
  3. The University of Hong Kong
  4. Zhejiang Children's Hospital
  5. Shenzhen People's Hospital
  6. Beijing Children's Hospital
  7. Peking University
  8. Shandong University School of Medicine