Role of gene polymorphism on knee osteoarthritis in the South Indian Hyderabad Population: A hospital based study with G595C variant.

Introduction: Osteoarthritis (OA) is a multifactorial disease with genetic factors playing a crucial role, and it has been associated with a family history of obesity. G595C polymorphism in the sterol regulatory element-binding protein 2 () gene has demonstrated an association with knee osteoarthritis (KOA) patients. However, this polymorphism has been never explored in an Indian population. Hence, the current study aimed to examine whether G595C (rs2228314) polymorphism in gene was associated with KOA susceptibility in the South Indian Hyderabad population.

Methods: G595C polymorphism was genotyped with 200 KOA cases and 200 healthy controls using polymerase chain reaction-restriction fragment length polymorphism analysis.

Results: A significant association was observed between age, body mass index (BMI), and family histories in KOA cases and controls (p < 0.05). The current allele (C vs G; OR-2.8 [95%CI = 2.1-3.7]; p < 0.0001) and genotype analysis confirms the significant association with (GC + CC vs GG; OR-3.5 [95%CI = 2.3-5.3]; p < 0.0001 & GC vs GG + CC; OR-1.7 [95%CI = 1.0-2.9]; p = 0.02) KOA vs. control subjects. On stratification analysis, genotype CC and C allele were associated with KOA. Gender association failed to demonstrate positive genotype frequencies (p > 0.05). Multifactor-dimensionality reduction (MDR) analysis showed a positive association with BMI and G595C genotypes (p < 0.05); 51% of the homozygous variant CC genotypes were present in obesity subjects.

Conclusion: In conclusion, our findings suggest that G595C polymorphism in gene is associated with KOA in the South Indian Hyderabad population and presents scope for further investigation of the gene's function in KOA.