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

2017 ◽  
Vol 11 (4) ◽  
pp. 594-600 ◽  
Author(s):  
Rishi Mugesh Kanna ◽  
Rajasekaran Shanmuganathan ◽  
Veera Ranjani Rajagopalan ◽  
Senthil Natesan ◽  
Raveendran Muthuraja ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Genetic Association ◽  
Association Analysis ◽  
Disc Degeneration ◽  
Lumbar Disc ◽  
Nucleotide Polymorphisms ◽  
Lumbar Disc Degeneration ◽  
Vertebral Endplate ◽  
Genetic Association Analysis ◽  
Study Population

<sec><title>Study Design</title><p>A prospective genetic association study.</p></sec><sec><title>Purpose</title><p>The 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.</p></sec><sec><title>Overview of Literature</title><p>MCs 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.</p></sec><sec><title>Methods</title><p>We 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.</p></sec><sec><title>Results</title><p>The 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 (<italic>p</italic>=0.02) and rs17099008 SNP of MMP20 (<italic>p</italic>=0.03) were significantly associated with MCs.</p></sec><sec><title>Conclusions</title><p>Genetic 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.</p></sec>

INTERVERTEBRAL DISC DEGENERATION LINKED TO STRUCTURAL GENE VARIATIONS

2019 ◽  
Author(s):  
Saeeda Baig
Keyword(s):  
Intervertebral Disc ◽  
Disc Degeneration ◽  
Intervertebral Disc Degeneration ◽  
English Language ◽  
Tandem Repeats ◽  
Lumbar Disc ◽  
Disease Process ◽  
Nucleotide Polymorphisms ◽  
Structural Protein ◽  
Lumbar Disc Degeneration

During the recent past focus has shifted from identifying intervertebral disc degeneration as being caused by physical exposure and strain to being linked with a variety of genetic variations. The objective of this review is to provide an up to date review of the existing research data regarding the relation of intervertebral disc degeneration to structural protein genes and their polymorphisms and thus help clearly establish further avenues where research into causation and treatment is needed. A comprehensive search using the keywords “Collagen”, “COL”, “Aggrecan”, “AGC”, “IVDD”, “intervertebral disc degeneration”, and “lumbar disc degeneration” from PubMed and Google Scholar, where literature in the English language was selected spanning from 1991 to 2019. There are many genes involved in the production of structural components of an intervertebral disc. The issues in production of these components involve the over-expression or under-expression of their genes, and single nucleotide polymorphisms and variable number of tandem repeats affecting their structures. These structural genes include primarily the collagen and the aggrecan genes. While genetic and environmental factors all come into play with a disease process like disc degeneration, the bulk of research now shows the significantly larger impact of hereditary over exposure. While further research is needed into some of the lesser studied genes linked to IVDD and also the racial variations in genetic makeup, the focus in the near future should be on establishment of genetic testing to identify individuals at greater risk of disease and deliberation regarding the use of gene therapy to prevent disc degeneration.

Association between Measures of Vertebral Endplate Morphology and Lumbar Intervertebral Disc Degeneration

2017 ◽  
Vol 68 (2) ◽  
pp. 210-216 ◽  
Author(s):  
Semra Duran ◽  
Mehtap Cavusoglu ◽  
Hatice Gul Hatipoglu ◽  
Deniz Sozmen Cılız ◽  
Bulent Sakman
Keyword(s):  
Intervertebral Disc ◽  
Disc Degeneration ◽  
Intervertebral Disc Degeneration ◽  
Lumbar Disc ◽  
Lumbar Disc Degeneration ◽  
Vertebral Endplate ◽  
Lumbar Intervertebral Disc ◽  
Sagittal Diameter ◽  
Magnetic Resonance Imaging Mri ◽  
Vertebral Endplates

Purpose The aim of this study was to evaluate the association between vertebral endplate morphology and the degree of lumbar intervertebral disc degeneration via magnetic resonance imaging (MRI). Methods In total, 150 patients who met the inclusion criteria and were 20–60 years of age were retrospectively evaluated. Patients were evaluated for the presence of intervertebral disc degeneration or herniation, and the degree of degeneration was assessed at all lumbar levels. Vertebral endplate morphology was evaluated based on the endplate sagittal diameter, endplate sagittal concave angle (ECA), and endplate sagittal concave depth (ECD) on sagittal MRI. The association between intervertebral disc degeneration or herniation and endplate morphological measurements was analysed. Results In MRI, superior endplates ( ie, inferior endplates of the superior vertebra) were concave and inferior endplates ( ie, superior endplates of the inferior vertebra) were flat at all disc levels. A decrease in ECD and an increase in ECA were detected at all lumbar levels as disc degeneration increased ( P < .05). At the L4-L5 and L5-S1 levels, a decrease in ECD and an increase in ECA were detected in the group with herniated lumbar discs ( P < .05). There was no association between lumbar disc degeneration or herniation and endplate sagittal diameter at lumbar intervertebral levels ( P > .05). At all levels, ECD of women was significantly lesser than that of men and ECA of women was significantly greater than that of men ( P < .05). Conclusions There is an association between vertebral endplate morphology and lumbar intervertebral disc degeneration. Vertebral endplates at the degenerated disc level become flat; the severity of this flattening is correlated with the degree of disc degeneration.

scholarly journals Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study

2009 ◽  
Vol 17 (8) ◽  
pp. 1056-1062 ◽  
Author(s):  
Erwin Reiling ◽  
Jana V van Vliet-Ostaptchouk ◽  
Esther van 't Riet ◽  
Timon W van Haeften ◽  
Pascal A Arp ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Candidate Genes ◽  
Genetic Association ◽  
Association Analysis ◽  
Type Ii Diabetes ◽  
Type Ii Diabetes Mellitus ◽  
Type Ii ◽  
Genetic Association Analysis ◽  
Damage Study

scholarly journals Genetic association analysis of COPD candidate genes with bronchodilator responsiveness

2009 ◽  
Vol 103 (4) ◽  
pp. 552-557 ◽  
Author(s):  
Woo Jin Kim ◽  
Craig P. Hersh ◽  
Dawn L. DeMeo ◽  
John J. Reilly ◽  
Edwin K. Silverman
Keyword(s):  
Candidate Genes ◽  
Genetic Association ◽  
Association Analysis ◽  
Genetic Association Analysis ◽  
Bronchodilator Responsiveness

scholarly journals Genetic Association Studies in Lumbar Disc Degeneration: A Systematic Review

PLoS ONE ◽  
2012 ◽  
Vol 7 (11) ◽  
pp. e49995 ◽  
Author(s):  
Pasi J. Eskola ◽  
Susanna Lemmelä ◽  
Per Kjaer ◽  
Svetlana Solovieva ◽  
Minna Männikkö ◽  
...  
Keyword(s):  
Systematic Review ◽  
Genetic Association ◽  
Disc Degeneration ◽  
Association Studies ◽  
Lumbar Disc ◽  
Genetic Association Studies ◽  
Lumbar Disc Degeneration

scholarly journals Pathophysiology of lumbar disc degeneration: a review of the literature

2002 ◽  
Vol 13 (2) ◽  
pp. 1-6 ◽  
Author(s):  
Michael D. Martin ◽  
Christopher M. Boxell ◽  
David G. Malone
Keyword(s):  
Disc Degeneration ◽  
Disc Herniation ◽  
Lumbar Disc ◽  
Review Of The Literature ◽  
Lumbar Disc Degeneration ◽  
Vertebral Endplate ◽  
Discogenic Pain ◽  
Degenerative Process ◽  
Motion Segment ◽  
Disc Nutrition

Lumbar disc degeneration occurs because of a variety of factors and results in a multitude of conditions. Alterations in the vertebral endplate cause loss of disc nutrition and disc degeneration. Aging, apoptosis, abnormalities in collagen, vascular ingrowth, loads placed on the disc, and abnormal proteoglycan all contribute to disc degeneration. Some forms of disc degeneration lead to loss of height of the motion segment with concomitant changes in biomechanics of the segment. Disc herniation with radiculopathy and chronic discogenic pain are the result of this degenerative process.

scholarly journals An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration

2012 ◽  
Vol 6 (1) ◽  
pp. 164-171 ◽  
Author(s):  
Ahmad Omair ◽  
Benedicte Alexandra Lie ◽  
Olav Reikeras ◽  
Jens Ivar Brox
Keyword(s):  
Disc Degeneration ◽  
Risk Allele ◽  
Lumbar Disc ◽  
Significant Risk ◽  
Low Back ◽  
Nucleotide Polymorphisms ◽  
Interleukin 18 ◽  
Lumbar Disc Degeneration ◽  
Single Nucleotide ◽  
Risk Alleles

Objectives: To examine association of candidate genetic variants in structural, inflammatory, matrix modifying, vitamin D receptor genes and variants associated with osteoarthritis, with surgical candidates and surgical patients with lumbar disc degeneration (LDD), in light of their previously reported susceptibility for LDD. Methods: Genotyping of 146 Norwegian LDD patients and 188 Norwegian controls was performed for 20 single-nucleotide polymorphisms (SNPs) from collagen, aggrecan, interleukin, VDR, MMP3 and COX2 genes and 7 SNPs from osteoarthritic genes. Results: The neighboring genes IL18R1 and IL18RAP polymorphisms (rs2287037 and rs1420100), showed a statistically non-significant risk for developing LDD (OR 1.36 [95 % CI 0.99 – 1.87]; p=0.06 and OR 1.33 [95 % CI 0.98-1.81]; p=0.07). Homozygosity of these risk alleles was associated with LDD (p=0.023 and p=0.027). The non-risk alleles at these SNPs were situated on a haplotype negatively associated with LDD (p=0.008). Carriage of at least one non-risk allele at both loci also reduces the risk of developing LDD (OR 0.51 [95 % CI 0.33-0.80]; p=0.003). Conclusion: Our findings support the polygenic nature of LDD and suggest that variation in interleukin 18 receptor genes could affect the risk of severe LDD and associated low back pain.

Candidate Gene Association Study of Magnetic Resonance Imaging-based Hip Osteoarthritis (OA): Evidence for COL9A2 Gene as a Common Predisposing Factor for Hip OA and Lumbar Disc Degeneration

2010 ◽  
Vol 38 (4) ◽  
pp. 747-752 ◽  
Author(s):  
ANNU NÄKKI ◽  
TAPIO VIDEMAN ◽  
URHO M. KUJALA ◽  
MATTI SUHONEN ◽  
MINNA MÄNNIKKÖ ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Disc Degeneration ◽  
Lumbar Disc ◽  
Connective Tissue Diseases ◽  
Hip Osteoarthritis ◽  
Nucleotide Polymorphisms ◽  
Resonance Imaging ◽  
Lumbar Disc Degeneration ◽  
Predisposing Factor

Objective.To study whether gene variants associated with lumbar disc degeneration (LDD) phenotypes are also associated with hip osteoarthritis (OA).Methods.Magnetic resonance imaging (MRI)-based hip OA changes for 345 twins were assessed and 99 single-nucleotide polymorphisms (SNP) were analyzed.Results.Variants in the COL9A2 (rs7533552, p = 0.0025) and COL10A1 (rs568725, p = 0.002) genes showed association with hip OA.Conclusion.The associating G allele in COL9A2 changes a glutamine to arginine or to tryptophan and may predispose to both hip OA and LDD, making it a candidate for degenerative connective tissue diseases.

Sign in / Sign up

Export Citation Format

Share Document