Association of IRF6 (G820A) Gene Variant with Nonsyndromic Cleft Lip and Palate in South Indian Population

Cleft lip and palate (CLP) is a major congenital structural anomaly. Cleft lip and palate has significant complex etiology involving both genetic and environmental factors and lifelong morbidity. Mutations in various genes like TGFB3, RARA, IRF6 have been responsible for causing CLP in various populations. This study was undertaken to evaluate the relationship and determine the degree of association of Interferon Regulatory Factor 6 (IRF6) (G820A) gene variant with nonsyndromic CLP (NSCLP) in South Indian population. The study group consisted of 50 samples who were patients at the department of orthodontics. The samples were divided into Group A with 25 cases having NSCLP and Group B with 25 controls. Two milliliter blood sample was collected from cases and controls each, for DNA isolation. The study revealed significant differences in the frequency distributions of genotypes of IRF6 (G820A) variant when cases were compared with controls, with high GG genotype frequency in cases whereas GA and AA genotype of IRF6 (G820A) gene variant was found more in control samples.