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Conference Paper: Genomi-wide association study on anorectal malformations in the Chinese population

TitleGenomi-wide association study on anorectal malformations in the Chinese population
Authors
Issue Date2010
PublisherThe American Society of Human Genetics.
Citation
The 60th Annual Meeting of the American Society of Human Genetics (ASHG 2010), Washington D.C., 2-6 November 2010. How to Cite?
AbstractAnorectal malformations (ARM) represent a complex group of congenital diseases characterized by the obstruction of anal opening. Occurring in 1 out of every 4,000 to 5,000 individuals, ARMs are one of the most common pediatric surgical problems. The spectrum of ARMs ranges from anal stenosis to anal atresia/imperforated anus with/without fistula to persistent cloaca. The etiology of ARMs remains unknown, although there is strong evidence for a genetic component. This is indicated by the very early developmental disruption, its recurrence in families and the high concordance of its existence with some abnormalities. Though several candidate genes e.g. endothelin-β receptor (EDNRB) and sonic hedgehog (Shh) were proposed for their potential roles in the development of ARMs, the causes of ARMs still remain unknown. To explore the genetic contribution to the pathogenesis of ARM, we performed systematic analyses of genetic markers, in 176 Chinese patients and 2986 ethnically matched individuals as controls. The genome-wide association study (GWAS) was performed using the Illumina Human 610-Quad BeadChips with 488, 394 SNPs successfully genotyped. An association peak encompassing two gene members of the solute carrier (SLC) family was observed, with p-value= (odds ratio 1.94, 95% CI: 1.54-2.45 for allele C) for the most associated SNP (rs11045422). To confirm the observed association, those statistically significant SNPs will be genotyped in an independent set of cases and controls. Bioinformatics and experimental analysis will be used to study the biological relevance of SLC genes in ARMs.
DescriptionPoster Presentation: abstract 2942/T
Persistent Identifierhttp://hdl.handle.net/10722/136027

 

DC FieldValueLanguage
dc.contributor.authorWong, EHMen_US
dc.contributor.authorTang, CSM-
dc.contributor.authorBarcelo, MG-
dc.contributor.authorZhang, XJ-
dc.contributor.authorLiu, JJ-
dc.contributor.authorCherny, SS-
dc.contributor.authorSham, PC-
dc.contributor.authorTam, PKH-
dc.date.accessioned2011-07-27T02:01:43Z-
dc.date.available2011-07-27T02:01:43Z-
dc.date.issued2010en_US
dc.identifier.citationThe 60th Annual Meeting of the American Society of Human Genetics (ASHG 2010), Washington D.C., 2-6 November 2010.en_US
dc.identifier.urihttp://hdl.handle.net/10722/136027-
dc.descriptionPoster Presentation: abstract 2942/T-
dc.description.abstractAnorectal malformations (ARM) represent a complex group of congenital diseases characterized by the obstruction of anal opening. Occurring in 1 out of every 4,000 to 5,000 individuals, ARMs are one of the most common pediatric surgical problems. The spectrum of ARMs ranges from anal stenosis to anal atresia/imperforated anus with/without fistula to persistent cloaca. The etiology of ARMs remains unknown, although there is strong evidence for a genetic component. This is indicated by the very early developmental disruption, its recurrence in families and the high concordance of its existence with some abnormalities. Though several candidate genes e.g. endothelin-β receptor (EDNRB) and sonic hedgehog (Shh) were proposed for their potential roles in the development of ARMs, the causes of ARMs still remain unknown. To explore the genetic contribution to the pathogenesis of ARM, we performed systematic analyses of genetic markers, in 176 Chinese patients and 2986 ethnically matched individuals as controls. The genome-wide association study (GWAS) was performed using the Illumina Human 610-Quad BeadChips with 488, 394 SNPs successfully genotyped. An association peak encompassing two gene members of the solute carrier (SLC) family was observed, with p-value= (odds ratio 1.94, 95% CI: 1.54-2.45 for allele C) for the most associated SNP (rs11045422). To confirm the observed association, those statistically significant SNPs will be genotyped in an independent set of cases and controls. Bioinformatics and experimental analysis will be used to study the biological relevance of SLC genes in ARMs.-
dc.languageengen_US
dc.publisherThe American Society of Human Genetics.-
dc.relation.ispartofAnnual Meeting of the American Society of Human Genetics, ASHG 2010en_US
dc.titleGenomi-wide association study on anorectal malformations in the Chinese populationen_US
dc.typeConference_Paperen_US
dc.identifier.emailWong, EHM: emilywongmm@yahoo.com.hken_US
dc.identifier.emailTang, CSM: claratang@hku.hk-
dc.identifier.emailCherny, SS: cherny@hku.hk-
dc.identifier.emailSham, PC: pcsham@.hku.hk-
dc.identifier.emailTam, PKH: paultam@hku.hk-
dc.identifier.authorityCherny, SS=rp00232en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros188450en_US
dc.publisher.placeUnited States-
dc.description.otherThe 60th Annual Meeting of the American Society of Human Genetics (ASHG 2010), Washington D.C., 2-6 November 2010.-

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