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Article: A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis

TitleA multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis
Authors
Keywordsadolescent
adolescent idiopathic scoliosis
disease severity
ethnicity
gene locus
Issue Date2019
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/jhg/index.html
Citation
Journal of Human Genetics, 2019, v. 64, p. 493-498 How to Cite?
AbstractAdolescent idiopathic scoliosis (AIS) is the most common type of scoliosis. Controlling its curve progression is the most important clinical task. Although recent genome-wide association studies (GWASs) identified several susceptibility loci associated with the development of AIS, the etiology of curve progression has been still unknown. Our previous GWAS has identified that rs12946942 showed significant association with severe AIS. To confirm the association, we conducted an international meta-analysis using four cohorts with different ethnicity. We analyzed 2272 severe AIS cases and 13,859 controls in total, and found the replication of significant association of rs12946942 (combined P = 7.23×10−13; odds ratio = 1.36, 95% confidence interval = 1.25−1.49). In silico analyses suggested that SOX9 is the most likely susceptibility gene for AIS curve progression in the locus.
Persistent Identifierhttp://hdl.handle.net/10722/276227
ISSN
2017 Impact Factor: 2.942
2015 SCImago Journal Rankings: 1.416

 

DC FieldValueLanguage
dc.contributor.authorTakeda, K-
dc.contributor.authorKou, I-
dc.contributor.authorOtomo, N-
dc.contributor.authorGrauers, A-
dc.contributor.authorFan, YH-
dc.contributor.authorOgura, Y-
dc.contributor.authorTakahashi, Y-
dc.contributor.authorMomozawa, Y-
dc.contributor.authorEinarsdottir, E-
dc.contributor.authorKere, J-
dc.contributor.authorJapan Scoliosis Clinical Research Group (JSCRG)-
dc.contributor.authorMatsumoto, M-
dc.contributor.authorQiu, Y-
dc.contributor.authorSong, YQ-
dc.contributor.authorGerdhem, P-
dc.contributor.authorWatanabe, K-
dc.contributor.authorIkegawa, S-
dc.date.accessioned2019-09-10T02:58:35Z-
dc.date.available2019-09-10T02:58:35Z-
dc.date.issued2019-
dc.identifier.citationJournal of Human Genetics, 2019, v. 64, p. 493-498-
dc.identifier.issn1434-5161-
dc.identifier.urihttp://hdl.handle.net/10722/276227-
dc.description.abstractAdolescent idiopathic scoliosis (AIS) is the most common type of scoliosis. Controlling its curve progression is the most important clinical task. Although recent genome-wide association studies (GWASs) identified several susceptibility loci associated with the development of AIS, the etiology of curve progression has been still unknown. Our previous GWAS has identified that rs12946942 showed significant association with severe AIS. To confirm the association, we conducted an international meta-analysis using four cohorts with different ethnicity. We analyzed 2272 severe AIS cases and 13,859 controls in total, and found the replication of significant association of rs12946942 (combined P = 7.23×10−13; odds ratio = 1.36, 95% confidence interval = 1.25−1.49). In silico analyses suggested that SOX9 is the most likely susceptibility gene for AIS curve progression in the locus.-
dc.languageeng-
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/jhg/index.html-
dc.relation.ispartofJournal of Human Genetics-
dc.rightsThis is a post-peer-review, pre-copyedit version of an article published in [insert journal title]. The final authenticated version is available online at: https://doi.org/[insert DOI]-
dc.subjectadolescent-
dc.subjectadolescent idiopathic scoliosis-
dc.subjectdisease severity-
dc.subjectethnicity-
dc.subjectgene locus-
dc.titleA multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis-
dc.typeArticle-
dc.identifier.emailSong, YQ: songy@hku.hk-
dc.identifier.authoritySong, YQ=rp00488-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/s10038-019-0575-7-
dc.identifier.pmid30787423-
dc.identifier.scopuseid_2-s2.0-85061838312-
dc.identifier.hkuros303684-
dc.identifier.volume64-
dc.identifier.spage493-
dc.identifier.epage498-
dc.publisher.placeUnited Kingdom-

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