scholarly journals Single Nucleotide Variants of Candidate Genes in Aggrecan Metabolic Pathway Are Associated with Lumbar Disc Degeneration and Modic Changes

PLoS ONE ◽  
2017 ◽  
Vol 12 (1) ◽  
pp. e0169835 ◽  
Author(s):  
Romain Shanil Perera ◽  
Poruwalage Harsha Dissanayake ◽  
Upul Senarath ◽  
Lalith Sirimevan Wijayaratne ◽  
Aranjan Lional Karunanayake ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Disc Degeneration ◽  
Metabolic Pathway ◽  
Lumbar Disc ◽  
Modic Changes ◽  
Lumbar Disc Degeneration ◽  
Single Nucleotide Variants ◽  
Single Nucleotide

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>

scholarly journals GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women

2011 ◽  
Vol 63 (3) ◽  
pp. 708-712 ◽  
Author(s):  
F. M. K. Williams ◽  
M. Popham ◽  
D. J. Hart ◽  
E. de Schepper ◽  
S. Bierma-Zeinstra ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Disc Degeneration ◽  
Lumbar Disc ◽  
Lumbar Disc Degeneration ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Northern European ◽  
European Women

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.

Radiologic Analysis of Kinematic Characteristics of Modic Changes Based on Lumbar Disc Degeneration Grade

2018 ◽  
Vol 114 ◽  
pp. e851-e856 ◽  
Author(s):  
Fan Zhang ◽  
Hongli Wang ◽  
Haocheng Xu ◽  
Minghao Shao ◽  
Feizhou Lu ◽  
...  
Keyword(s):  
Disc Degeneration ◽  
Lumbar Disc ◽  
Modic Changes ◽  
Lumbar Disc Degeneration ◽  
Kinematic Characteristics

scholarly journals Correlation between Sagittal Morphology of Lower Lumbar Endplate and Degenerative Changes in Patients with Lumbar Disc Herniation

2020 ◽  
Author(s):  
Chongqing Xu ◽  
Mengchen Yin ◽  
Wen Mo
Keyword(s):  
Disc Degeneration ◽  
Lumbar Disc Herniation ◽  
Disc Herniation ◽  
Lumbar Disc ◽  
Intervertebral Discs ◽  
Modic Changes ◽  
Observer Agreement ◽  
Imaging Data ◽  
Lumbar Disc Degeneration ◽  
Lower Lumbar

Abstract Background: As an important anatomic factor in the process of Lumbar disc herniation (LDH), the correlation between endplate sagittal morphology and intervertebral disc degeneration (IDD) is unclear. and research on imaging data of lumbar endplate in patients with LDH is still insufficient. Our study aimed to observe the morphological change of the lower lumbar endplate (L3-S1) in patients with LDH on magnetic resonance imaging (MRI), and analyze its correlation with the degree of IDD.Methods/Design: All 116 patients were included. Based on their MRI, we divided endplates into three types (concave, flat and irregular), assigned intervertebral discs with Grade I-V given 1-5 points successively according to Pfirrmann system, and determined whether there was Modic change of each endplate. The correlation between the morphology of endplate and the degree of IDD was analyzed.Results: There were excellent inter-observer agreement for each item we analyzed (ICC > 0.75). Concave endplate appeared most frequently (187, 53.7%) and mainly distributed in L3/4 and L4/5, while irregular endplate was the least common type (54, 15.5%) and mainly concentrated in L5/S1. The IDD degree of corresponding disc increased gradually from concave (3.27 ± 0.81) to irregular endplates (4.25 ± 0.79) (P < 0.05). Irregular endplates were more likely to have Modic changes than concave and flat endplates (P < 0.05). Conclusion: The sagittal morphology of lower lumbar endplate is related to Modic changes and degree of IDD (based on Pfirrmann grading system) in patients with LDH, and the concave endplate mostly reflects a lower degree of lumbar disc degeneration, which has substantial clinical significance.

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