STUDY DESIGN: A prospective genetic association study. PURPOSE: 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. OVERVIEW OF LITERATURE: 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. METHODS: 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. RESULTS: 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 (p=0.02) and rs17099008 SNP of MMP20 (p=0.03) were significantly associated with MCs. CONCLUSIONS: 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.
Cohort Studies ; Genetic Association Studies ; Humans ; Intervertebral Disc Degeneration ; Low Back Pain ; Magnetic Resonance Imaging ; Phenotype ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Prevalence* ; Prospective Studies ; Spine

Introduction: The movement and steadiness of the shoulder joint is due to both the dynamic and static stabilisers. Recurrent anterior shoulder instability is common due to the Bankart lesion or the Hill Sachs lesion. The bone loss and soft tissue failure due to these lesions causing instability is well compensated by Latarjet procedure which acts by triple blocking effect of the bone graft, the sling effect of the conjoint tendon of subscapularis and the ligament of the coracoacromial ligament stump. Materials and methods: Middle-aged patients with recurrent anterior shoulder dislocation and a mid-range instability on clinical assessment with an isolated glenoid bone loss of 20% or Bankart lesion with engaging Hill Sachs lesion were selected for the study. The surgical procedure included a subscapularis split to expose the glenoid. The coracoid graft harvested was prefixed with Kirschner wires and placed flush over the glenoid ensuring no medial or lateral overhang and fixed with 4.0mm cancellous screws with the washer. The functional outcome was measured with the ROWE score and ASES score and the movements were evaluated. Results: A total of 24 patients fulfilled the inclusion criteria. Post-operatively at final follow-up, the mean ROWE score was 97.08 ±8.45 and the mean ASES score was 94.4±9.10. One patient had screw breakage as a complication and another had restriction of movement which was managed with physiotherapy. Conclusion: Open Latarjet is an effective procedure for recurrent anterior shoulder instability in non-athletic middleaged patients as a excellent functional outcome was achieved with this technique. We therefore recommend open Latarjet as an alternative to arthroscopic treatment in developing countries where patient affordability and the availability of the resources are the issues.