Relation between TRP2 allele in COL9A2 gene and lumber disc degeneration in a subset of North Indian population

Abstract

Introduction: Lumbar disc prolapse is a disease in which the inner segment of disc ruptures from the outer segment. The disc prolapse starts as a result of lumbar disc degeneration (LDD). Various genetic factors were identified predisposing to higher risk of developing LDD. COL9A2 polymorphism is assuming a major role in the etiology of lumbar disc prolapse. Aim: This study was aimed to find the distribution of this polymorphism in the north Indian population and its true association with this disease. Methods: A total of 200 subjects (100 cases and 100 controls) were considered for this study. The cases were patients with complaint of low back pain who came to Rama Medical College Hospital and Research Centre, Kanpur between March 2018 and February 2020. The diagnosis of LDD was made by Magnetic resonance imaging (MRI) and clinical examination. The controls were volunteers (age matched), with no history of back pain or any other symptoms. Blood samples were collected from all subjects and DNA analysis was performed. Statistical analyses were analysed using SPSS version 22 (SPSS, USA).Odds Ratio (OR) with 95% Confidence Interval (CI) was applied to quantify the association of Trp2 allele to the Lumbar disc disease. Fisher’s exact test was used to find statistical significance of contingency table counts, with a p-value<0.05 as significant. Results: Mean ages of cases and controls (in years) were 43±12.6 and 42.5±13.8 respectively. BMI(kg/m2) of cases and controls were 23.71±4.27 and 22.93±3.87 respectively. The COL9A2 polymorphism was present in both cases and control. We found a 2.39 fold increase in the odds ratio of LDD when Trp2 allele present, OR 2.39 (1.06-5.38), p=0.03. Conclusion: The present study concluded that single nucleotide polymorphism in gene COL9A2 was found to be associated with the development of lumbar disc disease in the north Indian population.

Keywords

• disc prolapse
• back pain
• polymorphism
• tingling
• numbness