Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate Changes

Study DesignA prospective genetic association study.PurposeThe etiology of Modic changes (MCs) is unclear. Recently, the role of genetic factors in the etiology of MCs has been evaluated. However, studies with a larger patient subset are lacking, and candidate genes involved in other disc degenerati...

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Main Authors: Rishi Mugesh Kanna, Rajasekaran Shanmuganathan, Veera Ranjani Rajagopalan, Senthil Natesan, Raveendran Muthuraja, Kenneth Man Chee Cheung, Danny Chan, Patrick Yu Ping Kao, Anita Yee, Ajoy Prasad Shetty
Format: Article
Language:English
Published: Korean Spine Society 2017-08-01
Series:Asian Spine Journal
Subjects:
Online Access:http://www.asianspinejournal.org/upload/pdf/asj-11-594.pdf
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author Rishi Mugesh Kanna
Rajasekaran Shanmuganathan
Veera Ranjani Rajagopalan
Senthil Natesan
Raveendran Muthuraja
Kenneth Man Chee Cheung
Danny Chan
Patrick Yu Ping Kao
Anita Yee
Ajoy Prasad Shetty
author_facet Rishi Mugesh Kanna
Rajasekaran Shanmuganathan
Veera Ranjani Rajagopalan
Senthil Natesan
Raveendran Muthuraja
Kenneth Man Chee Cheung
Danny Chan
Patrick Yu Ping Kao
Anita Yee
Ajoy Prasad Shetty
author_sort Rishi Mugesh Kanna
collection DOAJ
description Study DesignA prospective genetic association study.PurposeThe etiology of Modic changes (MCs) is unclear. Recently, the role of genetic factors in the etiology of MCs has been evaluated. However, studies with a larger patient subset are lacking, and candidate genes involved in other disc degeneration phenotypes have not been evaluated. We studied the prevalence of MCs and genetic association of 41 candidate genes in a large Indian cohort.Overview of LiteratureMCs are vertebral endplate signal changes predominantly observed in the lumbar spine. A significant association between MCs and lumbar disc degeneration and nonspecific low back pain has been described, with the etiopathogenesis implicating various mechanical, infective, and biochemical factors.MethodsWe studied 809 patients using 1.5-T magnetic resonance imaging to determine the prevalence, patterns, distribution, and type of lumbar MCs. Genetic association analysis of 71 single nucleotide polymorphisms (SNPs) of 41 candidate genes was performed based on the presence or absence of MCs. SNPs were genotyped using the Sequenome platform, and an association test was performed using PLINK software.ResultsThe mean age of the study population (n=809) was 36.7±10.8 years. Based on the presence of MCs, the cohort was divided into 702 controls and 107 cases (prevalence, 13%). MCs were more commonly present in the lower (149/251, 59.4%) than in the upper (102/251, 40.6%) endplates. L4–5 endplates were the most commonly affected levels (30.7%). Type 2 MCs were the most commonly observed pattern (n=206, 82%). The rs2228570 SNP of VDR (p=0.02) and rs17099008 SNP of MMP20 (p=0.03) were significantly associated with MCs.ConclusionsGenetic polymorphisms of SNPs of VDR and MMP20 were significantly associated with MCs. Understanding the etiopathogenetic mechanisms of MCs is important for planning preventive and therapeutic strategies.
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spelling doaj.art-13e630559859407dafc1c24cfc2e7b1d2022-12-21T18:23:51ZengKorean Spine SocietyAsian Spine Journal1976-19021976-78462017-08-0111459460010.4184/asj.2017.11.4.594263Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate ChangesRishi Mugesh Kanna0Rajasekaran Shanmuganathan1Veera Ranjani Rajagopalan2Senthil Natesan3Raveendran Muthuraja4Kenneth Man Chee Cheung5Danny Chan6Patrick Yu Ping Kao7Anita Yee8Ajoy Prasad Shetty9Department of Orthopaedics and Spine Surgery, Ganga Hospital, Coimbatore, India.Department of Orthopaedics and Spine Surgery, Ganga Hospital, Coimbatore, India.Department of Plant Genomics, Tamilnadu Agricultural University, Coimbatore, India.Department of Plant Genomics, Tamilnadu Agricultural University, Coimbatore, India.Department of Plant Genomics, Tamilnadu Agricultural University, Coimbatore, India.Department of Orthopedics, University of Hong Kong, Hong Kong.Department of Orthopedics, University of Hong Kong, Hong Kong.Department of Orthopedics, University of Hong Kong, Hong Kong.Department of Orthopedics, University of Hong Kong, Hong Kong.Department of Orthopaedics and Spine Surgery, Ganga Hospital, Coimbatore, India.Study DesignA prospective genetic association study.PurposeThe etiology of Modic changes (MCs) is unclear. Recently, the role of genetic factors in the etiology of MCs has been evaluated. However, studies with a larger patient subset are lacking, and candidate genes involved in other disc degeneration phenotypes have not been evaluated. We studied the prevalence of MCs and genetic association of 41 candidate genes in a large Indian cohort.Overview of LiteratureMCs are vertebral endplate signal changes predominantly observed in the lumbar spine. A significant association between MCs and lumbar disc degeneration and nonspecific low back pain has been described, with the etiopathogenesis implicating various mechanical, infective, and biochemical factors.MethodsWe studied 809 patients using 1.5-T magnetic resonance imaging to determine the prevalence, patterns, distribution, and type of lumbar MCs. Genetic association analysis of 71 single nucleotide polymorphisms (SNPs) of 41 candidate genes was performed based on the presence or absence of MCs. SNPs were genotyped using the Sequenome platform, and an association test was performed using PLINK software.ResultsThe mean age of the study population (n=809) was 36.7±10.8 years. Based on the presence of MCs, the cohort was divided into 702 controls and 107 cases (prevalence, 13%). MCs were more commonly present in the lower (149/251, 59.4%) than in the upper (102/251, 40.6%) endplates. L4–5 endplates were the most commonly affected levels (30.7%). Type 2 MCs were the most commonly observed pattern (n=206, 82%). The rs2228570 SNP of VDR (p=0.02) and rs17099008 SNP of MMP20 (p=0.03) were significantly associated with MCs.ConclusionsGenetic polymorphisms of SNPs of VDR and MMP20 were significantly associated with MCs. Understanding the etiopathogenetic mechanisms of MCs is important for planning preventive and therapeutic strategies.http://www.asianspinejournal.org/upload/pdf/asj-11-594.pdfPrevalenceModic changesGenetic association studiesSingle nucleotide polymorphism
spellingShingle Rishi Mugesh Kanna
Rajasekaran Shanmuganathan
Veera Ranjani Rajagopalan
Senthil Natesan
Raveendran Muthuraja
Kenneth Man Chee Cheung
Danny Chan
Patrick Yu Ping Kao
Anita Yee
Ajoy Prasad Shetty
Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate Changes
Asian Spine Journal
Prevalence
Modic changes
Genetic association studies
Single nucleotide polymorphism
title Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate Changes
title_full Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate Changes
title_fullStr Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate Changes
title_full_unstemmed Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate Changes
title_short Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate Changes
title_sort prevalence patterns and genetic association analysis of modic vertebral endplate changes
topic Prevalence
Modic changes
Genetic association studies
Single nucleotide polymorphism
url http://www.asianspinejournal.org/upload/pdf/asj-11-594.pdf
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