Association Between MMP9 Gene Polymorphisms and Nonsyndromic Cleft Lip/Palate in an Indian Population

Cleft lip/palate (CL/P) is among the most common congenital anomalies worldwide. This study investigates the association between matrix metalloproteinase 9 (MMP9) gene polymorphism (rs3918242) and nonsyndromic CL/P in an Indian population. The study involved 120 individuals with nonsyndromic CL/P and 140 healthy controls. DNA was extracted from blood samples, and genotyping for MMP9 polymorphisms was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques with SphI enzymes. Statistical analysis included univariate and multivariate logistic regression models to calculate odds ratios and 95% confidence intervals, with significance set at P<0.05. Results indicated a significant association between MMP9 polymorphism and nonsyndromic CL/P, showing a higher prevalence of the T allele and TT genotype in cases compared to controls. This study suggests a potential link between MMP9 polymorphism and nonsyndromic CL/P in the Indian population, emphasizing the need for further research with larger and more diverse samples to provide more robust evidence. Expanded studies across different ethnic groups are crucial for a deeper understanding of the genetic factors contributing to CL/P.