Conclusion
In conclusion, our findings suggest that G595C polymorphism in SREBP2 gene is associated with KOA in the South Indian Hyderabad population and presents scope for further investigation of the gene's function in KOA.
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.