Transforming growth factor alpha polymorphism and cleft lip and palate in North Indian Population

One of the most common congenital malformations, with widespread racial and regional variation, is an orofacial cleft. Cleft lip and palate (CLP) are a congenital anomaly that results in incomplete or non-fusion of the lip and/or palate during the embryonic development of the child. Many studies support that the occurrence of CLP is attributed to a combination of factors of environment and genes. Earlier studies had studied many candidate genes for CLP in different populations but not all are significant to every population. Transforming growth factor alpha (TGFA) genes had been proposed as the candidate gene associated with CLP due to its involvement role in palatal process fusion during palate formation.

In this study, we studied the TGFA gene and its association with any type of orofacial cleft in the North Indian Population.

An observational case-control study was conducted on 50 patients presenting with oral clefts in hospitals, who were categorized as Cases and 50 controls were selected that were free from any defect. Controls were coming to the hospital for some other type of treatment. Cases were evaluated for various phenotypes of clefts. Blood samples of each case and control were collected to extract genomic deoxyribonucleic acid (DNA) and to further analyze the TGFA polymorphism in those cases and controls with Polymerase chain Reaction-Restriction fragment length polymorphism (PCR-RFLP). SPSS 23.0 version was employed for statistical analysis. The genotypic frequencies of TGFA gene variants were compared between cases and controls using appropriate statistics.

The results for gene polymorphism showed a significant association between TGFA gene polymorphisms and CLP in the North Indian population.

If we can identify any trait beforehand that is somehow linked with cleft lip and palate, we can help parents and children. This study provides evidence for an association between TGFA gene polymorphism and an increased risk of CLP in non-syndromic patients in the North Indian population. We need more future research to understand the underlying mechanisms that link TGFA gene variants to CLP and the gene-environment interactions.