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Conference Paper: Genome-wide copy number analysis uncovers a new HSCR gene: NRG3

TitleGenome-wide copy number analysis uncovers a new HSCR gene: NRG3
Authors
KeywordsComplex Traits: Theory and Methods
KW034 - Copy Number/Structural Variation
KW024 - Chromosomal Deletions
KW078 - Genome Scan
KW020 - Characterization of Disorders
KW039 - Delineation of Diseases
Issue Date2011
PublisherAmerican Society of Human Genetics/ICHG 2011 Meeting Management Office.
Citation
The 12th International Congress of Human Genetics (ICHG 2011) and the 61st Annual Meeting of the American Society of Human Genetics (ASHG 2011), Montreal, Canada, 11-15 October 2011. How to Cite?
AbstractHirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine. To assess the contribution of Copy Number Variants (CNVs) to HSCR, we analysed the data generated from our previous genome-wide association study on HSCR patients whereby we identified NRG1 as a new HSCR susceptibility locus. Analysis of 129 Chinese patients and 331 ethnically matched controls showed that HSCR patients have a greater burden of rare CNVs (p=1.50x10-5), particularly for those encompassing genes (p=5.00x10-6). We identified 246 rare-genic CNVs exclusive to patients. Among those, we detected a NRG3 deletion (p=1.64x10-3). Subsequent NRG3 follow-up (96 additional patients and 105 controls) revealed 9 deletions and 2 de novo duplications among patients and two deletions among controls (p=1.67x10-6). Importantly, NRG3 is a paralog of NRG1. Stratification of patients by presence/absence of HSCR-associated syndromes showed that while syndromic-HSCR patients carried significantly longer CNVs than the non-syndromic or controls (p=1.50x10-5), non-syndromic patients were enriched in CNV number when compared to controls (p=4.00x10-6) or the syndromic counterpart. Our results suggest a role for NRG3 in HSCR etiology and provide insights into the relative contribution of structural variants in both syndromic and non-syndromic HSCR. This would be the first genome-wide catalog of copy number variants identified in HSCR.
DescriptionThe ASHG 61st Annual Meeting will be subsumed in the 12th ICHG Meeting
Poster Session Title: Complex Traits: Theory and Methods: no. 415W
Persistent Identifierhttp://hdl.handle.net/10722/160406

 

DC FieldValueLanguage
dc.contributor.authorGarcia-Barcelo, Men_US
dc.contributor.authorTang, CSMen_US
dc.contributor.authorSo, MTen_US
dc.contributor.authorMarshall, CRen_US
dc.contributor.authorScherer, S-
dc.contributor.authorCherny, S-
dc.contributor.authorSham, P-
dc.contributor.authorTam, P-
dc.date.accessioned2012-08-16T06:09:58Z-
dc.date.available2012-08-16T06:09:58Z-
dc.date.issued2011en_US
dc.identifier.citationThe 12th International Congress of Human Genetics (ICHG 2011) and the 61st Annual Meeting of the American Society of Human Genetics (ASHG 2011), Montreal, Canada, 11-15 October 2011.en_US
dc.identifier.urihttp://hdl.handle.net/10722/160406-
dc.descriptionThe ASHG 61st Annual Meeting will be subsumed in the 12th ICHG Meeting-
dc.descriptionPoster Session Title: Complex Traits: Theory and Methods: no. 415W-
dc.description.abstractHirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine. To assess the contribution of Copy Number Variants (CNVs) to HSCR, we analysed the data generated from our previous genome-wide association study on HSCR patients whereby we identified NRG1 as a new HSCR susceptibility locus. Analysis of 129 Chinese patients and 331 ethnically matched controls showed that HSCR patients have a greater burden of rare CNVs (p=1.50x10-5), particularly for those encompassing genes (p=5.00x10-6). We identified 246 rare-genic CNVs exclusive to patients. Among those, we detected a NRG3 deletion (p=1.64x10-3). Subsequent NRG3 follow-up (96 additional patients and 105 controls) revealed 9 deletions and 2 de novo duplications among patients and two deletions among controls (p=1.67x10-6). Importantly, NRG3 is a paralog of NRG1. Stratification of patients by presence/absence of HSCR-associated syndromes showed that while syndromic-HSCR patients carried significantly longer CNVs than the non-syndromic or controls (p=1.50x10-5), non-syndromic patients were enriched in CNV number when compared to controls (p=4.00x10-6) or the syndromic counterpart. Our results suggest a role for NRG3 in HSCR etiology and provide insights into the relative contribution of structural variants in both syndromic and non-syndromic HSCR. This would be the first genome-wide catalog of copy number variants identified in HSCR.-
dc.languageengen_US
dc.publisherAmerican Society of Human Genetics/ICHG 2011 Meeting Management Office.-
dc.relation.ispartofInternational Congress of Human Genetics, ICHG 2011en_US
dc.subjectComplex Traits: Theory and Methods-
dc.subjectKW034 - Copy Number/Structural Variation-
dc.subjectKW024 - Chromosomal Deletions-
dc.subjectKW078 - Genome Scan-
dc.subjectKW020 - Characterization of Disorders-
dc.subjectKW039 - Delineation of Diseases-
dc.titleGenome-wide copy number analysis uncovers a new HSCR gene: NRG3en_US
dc.typeConference_Paperen_US
dc.identifier.emailGarcia-Barcelo, M: mmgarcia@hku.hken_US
dc.identifier.emailTang, CSM: claratang@hku.hken_US
dc.identifier.emailSo, MT: jaymtso@hku.hken_US
dc.identifier.emailCherny, S: cherny@hku.hken_US
dc.identifier.emailSham, P: pcsham@hku.hk-
dc.identifier.emailTam, P: paultam@hku.hk-
dc.identifier.authorityGarcia-Barcelo, M=rp00445en_US
dc.identifier.authorityCherny, S=rp00232en_US
dc.identifier.authoritySham, P=rp00459en_US
dc.identifier.authorityTam, P=rp00060en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros205565en_US
dc.publisher.placeUnited States-

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