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: Children with learning difficulties (LD) have poorer oral health compared to those without LD due to barriers in maintaining oral care. However, the scarcity of data for this population in Malaysia has left a huge gap in understanding their problems and how to overcome those barriers. Therefore, this study was conducted to evaluate the unmet dental needs and barriers to care perceived by the guardians of children with learning difficulties (CWLD) attending the Special Education Integrated Programmes of a mainstream primary school, in comparison to children without learning difficulties. Methods: This cross-sectional study surveyed the guardians of CWLD (case) and those without LD (control), aged 6-12 years old. A total of 225 questionnaires were distributed to the guardians with a response rate of 40.4% (N=91). Unmet dental needs and barriers in both groups were analysed using the chi-square test. Barriers with significant Chi-square results were further tested with logistic regression to investigate possible confounders. Results: Unmet dental needs of 23.1% of CWLD were found. Most of the guardians agreed that regular dental check-ups were the most needed dental treatment (27.1%) compared to other treatments. The child’s behaviour and the unwillingness of the dentists to treat were among the significant barriers to dental care within the CWLD group. Conclusion: Despite regular dental visits, guardians of CWLD perceived that their children had the most unmet dental needs compared to other children without LD, with significant barriers in terms of accessing professional dental services.