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Conference Paper: Comprehensive Analysis of MRI-Phenotypes Provides New Insights into Lumbar Disc Degeneration for Genetic Studies
Title | Comprehensive Analysis of MRI-Phenotypes Provides New Insights into Lumbar Disc Degeneration for Genetic Studies |
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Authors | |
Issue Date | 2014 |
Publisher | Georg Thieme Verlag. The Journal's web site is located at http://www.thieme.com/index.php?page=shop.product_details&flypage=flypage.tpl&product_id=1351&category_id=90&option=com_virtuemart&Itemid=53 |
Citation | The 2014 World Forum for Spine Research (WFSR), Xi'an, China,15-17 May 2014. In Global Spine Journal, 2014, v. 4 suppl. 1, p. S20-S21, abstract no. ST5.06 How to Cite? |
Abstract | Introduction
For the past two decades, numerous genetic association
studies addressing lumbar disc degeneration (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 addressed. 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.
Materials and 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, 15.0-65.4 years; 40.7% males; 59.3% females).
Loss of disc signal intensity, disc bulges/extrusions,
Schmorl nodes, high-intensity zones, and bone marrow
changes were assessed on imaging. Subject demographics,
environmental, and lifestyle factors were also evaluated. Pairwised
polychoric correlations between phenotypes in all five
lumbar discs were performed using R v3.01 Heritability was
estimated by Genome-wide Complex Trait Analysis (GCTA)
using genotype data to identify phenotypes shared common
genetic factors. Local regressions were performed between
conditions and risk factors, such as age and body mass index,
to distinguish the relationship between phenotypes and
environmental factors. Phenotypes which were highly correlated
and shared common genetic factors were grouped to
form a new measurement.
Results
Analyses suggested distinct genetic etiologies for the upper
(L1-L2) versus lower regions (L3-S1).Estimation of heritability
showed the upper (L1-L2) and lower regions (L3-S1) of the
lumbar spine shared common genetics factors, respectively;
but upper and lower regions could present independent
genetic features. Regression between phenotype and age
denoted that age-related condition was restricted to lower
regions while the upper region suggests developmental characters.
By combining highly correlated MRI phenotypes in the
upper and lower regions separately, two composite scores
were generated: a degenerative score (DgS) (represents agerelated
disc changes) and a developmental score (DvS) (represents
congenital variations). Conclusion
Based on one of the largest population-based MRI studies of
LDD, comprehensive analyses of MRI phenotypes provided
new insights into its etiology. Our study proposes a novel
phenotype scoring system to assess disc changes on MRI. This
scoring system can be used as the basis to promote a standardization
of phenotype delineation, maximizing the potential
of replication and meta-analysis studies of genetic risk
factors for LDD.
Disclosure of Interest
None declared |
Description | Conference Theme: The Intervertebral Disc - from Degeneration to Therapeutic Motion Preservation Short Talk Session |
Persistent Identifier | http://hdl.handle.net/10722/203765 |
ISSN | 2023 Impact Factor: 2.6 2023 SCImago Journal Rankings: 1.264 |
DC Field | Value | Language |
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dc.contributor.author | Li, Y | en_US |
dc.contributor.author | Samartzis, D | en_US |
dc.contributor.author | Campbell, D | en_US |
dc.contributor.author | Cheung, KMC | en_US |
dc.contributor.author | Luk, KDK | en_US |
dc.contributor.author | Karppinen, JI | en_US |
dc.contributor.author | Cheah, KSE | en_US |
dc.contributor.author | Chan, D | en_US |
dc.contributor.author | Sham, PC | en_US |
dc.date.accessioned | 2014-09-19T16:40:58Z | - |
dc.date.available | 2014-09-19T16:40:58Z | - |
dc.date.issued | 2014 | en_US |
dc.identifier.citation | The 2014 World Forum for Spine Research (WFSR), Xi'an, China,15-17 May 2014. In Global Spine Journal, 2014, v. 4 suppl. 1, p. S20-S21, abstract no. ST5.06 | en_US |
dc.identifier.issn | 2192-5682 | - |
dc.identifier.uri | http://hdl.handle.net/10722/203765 | - |
dc.description | Conference Theme: The Intervertebral Disc - from Degeneration to Therapeutic Motion Preservation | - |
dc.description | Short Talk Session | - |
dc.description.abstract | Introduction For the past two decades, numerous genetic association studies addressing lumbar disc degeneration (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 addressed. 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. Materials and 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, 15.0-65.4 years; 40.7% males; 59.3% females). Loss of disc signal intensity, disc bulges/extrusions, Schmorl nodes, high-intensity zones, and bone marrow changes were assessed on imaging. Subject demographics, environmental, and lifestyle factors were also evaluated. Pairwised polychoric correlations between phenotypes in all five lumbar discs were performed using R v3.01 Heritability was estimated by Genome-wide Complex Trait Analysis (GCTA) using genotype data to identify phenotypes shared common genetic factors. Local regressions were performed between conditions and risk factors, such as age and body mass index, to distinguish the relationship between phenotypes and environmental factors. Phenotypes which were highly correlated and shared common genetic factors were grouped to form a new measurement. Results Analyses suggested distinct genetic etiologies for the upper (L1-L2) versus lower regions (L3-S1).Estimation of heritability showed the upper (L1-L2) and lower regions (L3-S1) of the lumbar spine shared common genetics factors, respectively; but upper and lower regions could present independent genetic features. Regression between phenotype and age denoted that age-related condition was restricted to lower regions while the upper region suggests developmental characters. By combining highly correlated MRI phenotypes in the upper and lower regions separately, two composite scores were generated: a degenerative score (DgS) (represents agerelated disc changes) and a developmental score (DvS) (represents congenital variations). Conclusion Based on one of the largest population-based MRI studies of LDD, comprehensive analyses of MRI phenotypes provided new insights into its etiology. Our study proposes a novel phenotype scoring system to assess disc changes on MRI. This scoring system can be used as the basis to promote a standardization of phenotype delineation, maximizing the potential of replication and meta-analysis studies of genetic risk factors for LDD. Disclosure of Interest None declared | - |
dc.language | eng | en_US |
dc.publisher | Georg Thieme Verlag. The Journal's web site is located at http://www.thieme.com/index.php?page=shop.product_details&flypage=flypage.tpl&product_id=1351&category_id=90&option=com_virtuemart&Itemid=53 | - |
dc.relation.ispartof | Global Spine Journal | en_US |
dc.rights | Global Spine Journal. Copyright © Georg Thieme Verlag. | - |
dc.title | Comprehensive Analysis of MRI-Phenotypes Provides New Insights into Lumbar Disc Degeneration for Genetic Studies | en_US |
dc.type | Conference_Paper | en_US |
dc.identifier.email | Samartzis, D: dspine@hku.hk | en_US |
dc.identifier.email | Cheung, KMC: cheungmc@hku.hk | en_US |
dc.identifier.email | Luk, KDK: hrmoldk@hkucc.hku.hk | en_US |
dc.identifier.email | Cheah, KSE: hrmbdkc@hku.hk | en_US |
dc.identifier.email | Chan, D: chand@hku.hk | en_US |
dc.identifier.email | Sham, PC: pcsham@hku.hk | en_US |
dc.identifier.authority | Samartzis, D=rp01430 | en_US |
dc.identifier.authority | Cheung, KMC=rp00387 | en_US |
dc.identifier.authority | Luk, KDK=rp00333 | en_US |
dc.identifier.authority | Cheah, KSE=rp00342 | en_US |
dc.identifier.authority | Chan, D=rp00540 | en_US |
dc.identifier.hkuros | 238036 | en_US |
dc.identifier.volume | 4 | - |
dc.identifier.issue | suppl. 1 | - |
dc.identifier.spage | S20, abstract no. ST5.06 | - |
dc.identifier.epage | S21 | - |
dc.publisher.place | Germany | en_US |
dc.identifier.issnl | 2192-5682 | - |