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Conference Paper: Genome-wide association study of Hirschsprung’s disease

TitleGenome-wide association study of Hirschsprung’s disease
Authors
Issue Date2008
PublisherSpringer New York LLC. The Journal's web site is located at http://www.springer.com/psychology/journal/10519
Citation
The 38th Annual meeting of the Behavior Genetics Association (BGA 2008), Louisville, KT., 25-28 June 2008. In Behavior Genetics, 2008, v. 38 n. 6, p. 618 How to Cite?
AbstractHirschsprung’s disease (HSCR), or aganglionic megacolon, is a congenital disorder characterized by the absence of enteric ganglia in variable portions of the distal intestine. RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci contributing to sporadic HSCR. To identify these additional genetic loci, we carried out a genome-wide association study using the Affymetrix 500 K marker set. We genotyped 493,840 single-nucleotide polymorphisms (SNPs) in 200 Chinese subjects with sporadic HSCR and 306 ethnically matched control subjects. The SNPs most associated with HSCR were genotyped in an independent set of 190 HSCR and 510 control subjects. Aside from SNPs in RET, the strongest overall associations were found for two SNPs on chromosome 8p, yielding odds ratios of 1.68 [CI95%:(1.40,2.00), P = 1.88 9 10–8] and 1.98 [CI95%:(1.59,2.47), P = 6.12 9 10–10], respectively, for the heterozygous risk genotypes under an additive model. There was also a significant interaction between RET and the 8p locus (P = 0.0095), increasing the odds ratio 2.3-fold to 19.53 for the RET rs2435357 risk genotype (TT) in the presence of the 8p risk heterozygote. Our highly significant association findings are backedup by the important role of the identified gene as a regulator of the development of the enteric ganglia precursors.
DescriptionPP. 612-653 of this journal issue entitled: Behavior Genetics Association 38th Annual Meeting Abstracts
Persistent Identifierhttp://hdl.handle.net/10722/105430
ISSN
2015 Impact Factor: 3.268
2015 SCImago Journal Rankings: 1.457

 

DC FieldValueLanguage
dc.contributor.authorCherny, SSen_HK
dc.contributor.authorGarcia-Barcelo, MMen_HK
dc.contributor.authorTang, SMen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorTam, PKHen_HK
dc.date.accessioned2010-09-25T22:33:49Z-
dc.date.available2010-09-25T22:33:49Z-
dc.date.issued2008en_HK
dc.identifier.citationThe 38th Annual meeting of the Behavior Genetics Association (BGA 2008), Louisville, KT., 25-28 June 2008. In Behavior Genetics, 2008, v. 38 n. 6, p. 618en_HK
dc.identifier.issn0001-8244-
dc.identifier.urihttp://hdl.handle.net/10722/105430-
dc.descriptionPP. 612-653 of this journal issue entitled: Behavior Genetics Association 38th Annual Meeting Abstracts-
dc.description.abstractHirschsprung’s disease (HSCR), or aganglionic megacolon, is a congenital disorder characterized by the absence of enteric ganglia in variable portions of the distal intestine. RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci contributing to sporadic HSCR. To identify these additional genetic loci, we carried out a genome-wide association study using the Affymetrix 500 K marker set. We genotyped 493,840 single-nucleotide polymorphisms (SNPs) in 200 Chinese subjects with sporadic HSCR and 306 ethnically matched control subjects. The SNPs most associated with HSCR were genotyped in an independent set of 190 HSCR and 510 control subjects. Aside from SNPs in RET, the strongest overall associations were found for two SNPs on chromosome 8p, yielding odds ratios of 1.68 [CI95%:(1.40,2.00), P = 1.88 9 10–8] and 1.98 [CI95%:(1.59,2.47), P = 6.12 9 10–10], respectively, for the heterozygous risk genotypes under an additive model. There was also a significant interaction between RET and the 8p locus (P = 0.0095), increasing the odds ratio 2.3-fold to 19.53 for the RET rs2435357 risk genotype (TT) in the presence of the 8p risk heterozygote. Our highly significant association findings are backedup by the important role of the identified gene as a regulator of the development of the enteric ganglia precursors.-
dc.languageengen_HK
dc.publisherSpringer New York LLC. The Journal's web site is located at http://www.springer.com/psychology/journal/10519-
dc.relation.ispartofBehavior Geneticsen_HK
dc.rightsBehavior Genetics. Copyright © Springer New York LLC.-
dc.titleGenome-wide association study of Hirschsprung’s diseaseen_HK
dc.typeConference_Paperen_HK
dc.identifier.emailCherny, SS: cherny@hku.hken_HK
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hkucc.hku.hken_HK
dc.identifier.emailTang, SM: claratsm@graduate.hku.hken_HK
dc.identifier.emailSham, PC: pcsham@HKUCC.hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_HK
dc.identifier.authorityCherny, SS=rp00232en_HK
dc.identifier.authorityGarcia-Barcelo, MM=rp00445en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.identifier.hkuros145504en_HK
dc.identifier.volume38en_HK
dc.identifier.issue6-
dc.identifier.spage618-
dc.identifier.epage618-
dc.publisher.placeUnited States-
dc.customcontrol.immutablesml 160603 amended-

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