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Conference Paper: Comprehensive Analysis of MRI‐phenotypes Provides New Insights into Lumbar Disc Degeneration for Genetic Studies

TitleComprehensive Analysis of MRI‐phenotypes Provides New Insights into Lumbar Disc Degeneration for Genetic Studies
Authors
Issue Date2014
PublisherThe International Society for the Study of the Lumbar Spine (ISSLS).
Citation
The 41st Annual Meeting of the International Society for the Study of the Lumbar Spine (ISSLS), Seoul, Korea, 3-7 June 2014. In the Abstract Book of the 41st Annual Meeting of the International Society for the Study of the Lumbar Spine (ISSLS), 2014, p. 48-49, abstract no. 69 How to Cite?
AbstractINTRODUCTION: Numerous genetic associa‐ tion studies addressing lumbar disc degen‐ eration (LDD) have been performed, but few of them can be replicated. The possible reasons could be the phenotype definition of LDD was highly variable between studies and level‐specific variations were not ad‐ dressed. As such, this study addressed the relationship between MRI features of the discs at different lumbar levels to explore the etiology of LDD; thereby, providing new insights and measurements for genetic studies. METHODS: Sagittal T2‐weighted MRI of the lumbar spine was assessed in a population sample of 2,952 Southern Chinese (mean age, 41.1 years; range, 15.0 to 65.4 years; 40.7% males; 59.3% females). Loss of disc signal intensity, disc bulges/extrusions, Schmorl's nodes, high‐intensity zones, and bone marrow changes were assessed on imaging. Subject demographics, environ‐ mental and lifestyle factors were also eval‐ uated. Polychoric correlations, heritability estimations and local regression statistical analyses were performed.   RESULTS: Analyses suggested distinct genet‐ ic etiologies for the upper (L1‐L2) versus lower regions (L3‐S1). Age‐related condition was restricted to lower regions while the upper region suggests congenital. By com‐ bining highly‐correlated MRI‐phenotypes in the upper and lower regions separately, two composite scores were generated: a degen‐ erative score (DgS) (represents age‐related disc changes) and a developmental score (DvS) (represents congenital variations). DISCUSSION: Based on one of the largest population‐based studies of LDD, compre‐ hensive analyses of MRI‐phenotypes pro‐ vided new insights into its etiology. Our study proposes a novel phenotype scoring system. This scoring system can be used as the basis to promote a standardization of phenotype delineation, maximizing the po‐ tential of replication and meta‐analysis studies of genetic risk factors for LDD.
DescriptionOral Presentation
Session #18: Topic Imaging
Persistent Identifierhttp://hdl.handle.net/10722/203766

 

DC FieldValueLanguage
dc.contributor.authorLi, Yen_US
dc.contributor.authorSamartzis, Den_US
dc.contributor.authorCampbell, Den_US
dc.contributor.authorCheung, KMCen_US
dc.contributor.authorLuk, KDKen_US
dc.contributor.authorKarppinen, JIen_US
dc.contributor.authorCheah, KSEen_US
dc.contributor.authorChan, Den_US
dc.contributor.authorSham, PCen_US
dc.date.accessioned2014-09-19T16:40:58Z-
dc.date.available2014-09-19T16:40:58Z-
dc.date.issued2014en_US
dc.identifier.citationThe 41st Annual Meeting of the International Society for the Study of the Lumbar Spine (ISSLS), Seoul, Korea, 3-7 June 2014. In the Abstract Book of the 41st Annual Meeting of the International Society for the Study of the Lumbar Spine (ISSLS), 2014, p. 48-49, abstract no. 69en_US
dc.identifier.urihttp://hdl.handle.net/10722/203766-
dc.descriptionOral Presentation-
dc.descriptionSession #18: Topic Imaging-
dc.description.abstractINTRODUCTION: Numerous genetic associa‐ tion studies addressing lumbar disc degen‐ eration (LDD) have been performed, but few of them can be replicated. The possible reasons could be the phenotype definition of LDD was highly variable between studies and level‐specific variations were not ad‐ dressed. As such, this study addressed the relationship between MRI features of the discs at different lumbar levels to explore the etiology of LDD; thereby, providing new insights and measurements for genetic studies. METHODS: Sagittal T2‐weighted MRI of the lumbar spine was assessed in a population sample of 2,952 Southern Chinese (mean age, 41.1 years; range, 15.0 to 65.4 years; 40.7% males; 59.3% females). Loss of disc signal intensity, disc bulges/extrusions, Schmorl's nodes, high‐intensity zones, and bone marrow changes were assessed on imaging. Subject demographics, environ‐ mental and lifestyle factors were also eval‐ uated. Polychoric correlations, heritability estimations and local regression statistical analyses were performed.   RESULTS: Analyses suggested distinct genet‐ ic etiologies for the upper (L1‐L2) versus lower regions (L3‐S1). Age‐related condition was restricted to lower regions while the upper region suggests congenital. By com‐ bining highly‐correlated MRI‐phenotypes in the upper and lower regions separately, two composite scores were generated: a degen‐ erative score (DgS) (represents age‐related disc changes) and a developmental score (DvS) (represents congenital variations). DISCUSSION: Based on one of the largest population‐based studies of LDD, compre‐ hensive analyses of MRI‐phenotypes pro‐ vided new insights into its etiology. Our study proposes a novel phenotype scoring system. This scoring system can be used as the basis to promote a standardization of phenotype delineation, maximizing the po‐ tential of replication and meta‐analysis studies of genetic risk factors for LDD.-
dc.languageengen_US
dc.publisherThe International Society for the Study of the Lumbar Spine (ISSLS).-
dc.relation.ispartofAnnual Meeting of the International Society for the Study of the Lumbar Spine (ISSLS)en_US
dc.titleComprehensive Analysis of MRI‐phenotypes Provides New Insights into Lumbar Disc Degeneration for Genetic Studiesen_US
dc.typeConference_Paperen_US
dc.identifier.emailSamartzis, D: dspine@hku.hken_US
dc.identifier.emailCheung, KMC: cheungmc@hku.hken_US
dc.identifier.emailLuk, KDK: hrmoldk@hkucc.hku.hken_US
dc.identifier.emailCheah, KSE: hrmbdkc@hku.hken_US
dc.identifier.emailChan, D: chand@hku.hken_US
dc.identifier.emailSham, PC: pcsham@hku.hken_US
dc.identifier.authoritySamartzis, D=rp01430en_US
dc.identifier.authorityCheung, KMC=rp00387en_US
dc.identifier.authorityLuk, KDK=rp00333en_US
dc.identifier.authorityCheah, KSE=rp00342en_US
dc.identifier.authorityChan, D=rp00540en_US
dc.identifier.hkuros238045en_US
dc.identifier.hkuros237081-
dc.identifier.spage48, abstract no. 69-
dc.identifier.epage49, abstract no. 69-
dc.publisher.placeSeoul, Koreaen_US

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