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Conference Paper: Genome-wide association study of adolescent idiopathic scoliosis in southern China

TitleGenome-wide association study of adolescent idiopathic scoliosis in southern China
Authors
Issue Date2011
Citation
The 12th International Phillip Zorab Symposium, London, U.K., 16-18 March 2011. How to Cite?
AbstractINTRODUCTION: The cause of adolescent idiopathic scoliosis (AIS) is still not known. Although several candidate gene studies and linkage analyses have been done, no causal relationship has yet been established. To our knowledge, we report the first case-control based genome-wide association study (GWAS) for this trait. METHODS: The study was undertaken in a set of 196 cases with a specific AIS phenotype (based on Lenke’s classification) in southern China, and in 401 controls without radiological evidence of scoliosis. RESULTS: Two single-nucleotide polymorphisms (SNPs) on one particular chromosome showed marginal significant association (snp1: p=1∙32x10–6, odds ratio=0∙52; snp2: p=1∙23x10–5, odds ratio=0∙55). Imputation results suggested that three more SNPs in this region showed significant association (snp3: p=2∙47x10–7, odds ratio=0∙49; snp4 and snp5: p=1∙68x10–6, odds ratio=0∙53). CONCLUSIONS: Despite the small number of cases and controls, the strength of this study is in the use of a specific phenotype and that all controls were mature individuals with radiological confirmation of straight spines. We believe that these factors have contributed to the success of the GWAS. Our findings offer the potential to explore the pathogenesis of AIS with GWAS.
Persistent Identifierhttp://hdl.handle.net/10722/142669

 

DC FieldValueLanguage
dc.contributor.authorFan, YHen_US
dc.contributor.authorCheung, KMCen_US
dc.contributor.authorChan, Den_US
dc.contributor.authorCheung, WYen_US
dc.contributor.authorCheah, KSEen_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorLuk, KDKen_US
dc.contributor.authorSong, YQen_US
dc.date.accessioned2011-10-28T02:54:03Z-
dc.date.available2011-10-28T02:54:03Z-
dc.date.issued2011en_US
dc.identifier.citationThe 12th International Phillip Zorab Symposium, London, U.K., 16-18 March 2011.en_US
dc.identifier.urihttp://hdl.handle.net/10722/142669-
dc.description.abstractINTRODUCTION: The cause of adolescent idiopathic scoliosis (AIS) is still not known. Although several candidate gene studies and linkage analyses have been done, no causal relationship has yet been established. To our knowledge, we report the first case-control based genome-wide association study (GWAS) for this trait. METHODS: The study was undertaken in a set of 196 cases with a specific AIS phenotype (based on Lenke’s classification) in southern China, and in 401 controls without radiological evidence of scoliosis. RESULTS: Two single-nucleotide polymorphisms (SNPs) on one particular chromosome showed marginal significant association (snp1: p=1∙32x10–6, odds ratio=0∙52; snp2: p=1∙23x10–5, odds ratio=0∙55). Imputation results suggested that three more SNPs in this region showed significant association (snp3: p=2∙47x10–7, odds ratio=0∙49; snp4 and snp5: p=1∙68x10–6, odds ratio=0∙53). CONCLUSIONS: Despite the small number of cases and controls, the strength of this study is in the use of a specific phenotype and that all controls were mature individuals with radiological confirmation of straight spines. We believe that these factors have contributed to the success of the GWAS. Our findings offer the potential to explore the pathogenesis of AIS with GWAS.-
dc.languageengen_US
dc.relation.ispartofInternational Phillip Zorab Symposiumen_US
dc.titleGenome-wide association study of adolescent idiopathic scoliosis in southern Chinaen_US
dc.typeConference_Paperen_US
dc.identifier.emailCheung, KMC: cheungmc@hku.hken_US
dc.identifier.emailChan, D: chand@hku.hken_US
dc.identifier.emailCheung, WY: lcheung@hkucc.hku.hken_US
dc.identifier.emailCheah, KSE: hrmbdkc@hku.hken_US
dc.identifier.emailSham, PC: pcsham@hku.hken_US
dc.identifier.emailLuk, KDK: hcm21000@hku.hken_US
dc.identifier.emailSong, YQ: songy@hku.hken_US
dc.identifier.authorityCheung, KMC=rp00387en_US
dc.identifier.authorityChan, D=rp00540en_US
dc.identifier.authorityCheah, KSE=rp00342en_US
dc.identifier.authoritySham, PC=rp00459en_US
dc.identifier.authorityLuk, KDK=rp00333en_US
dc.identifier.authoritySong, YQ=rp00488en_US
dc.identifier.hkuros197125en_US
dc.identifier.hkuros188506-
dc.identifier.hkuros188503-
dc.description.otherThe 12th International Phillip Zorab Symposium, London, U.K., 16-18 March 2011.-

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