Evidence for transforming growth factor-beta 3 gene polymorphism in nonsyndromiccleft lip and palate patients from indian sub-continent

ABSTRACT

Objectives: Orofacial clefts are major human birth defects with complex etiology. Previous studies have proposed Transforming growth factor - beta 3 (TGF-Beta3) gene as a key player in contributing to non-syndromic cleft lip and palate, however none of the studies have yet included Indian population. Hence this study was designed to detectTGF-Beta3 gene polymorphism in nonsyndromic cleft lip and palate patients from Indian population which is genetically distinct from previously studied populations. Study Design: Peripheral blood samples of forty non-syndromic cleft lip and palate patients and forty unaffected individuals were collected for a case - control study design. Ethical clearance from the institutional review board and informed consent from all subjects was obtained. DNA extracted from the cases and controls was amplified using polymerase chain reaction (PCR) with TGF-Beta3 specific primers. The obtained fragments were sequenced and TGF-Beta3 gene polymorphisms were assessed based on the number of CA repeats. Results: Chi -square test was used to compare the case and control groups. Results showed a significant difference in the number of CA repeats between the case and the control groups (p=0.01).Conclusion: This study confirms the crucial role of TGF-Beta3 in the fusion of palatal shelves during development and further, provides novel evidence of TGF-Beta3 gene polymorphism in the etiology of nonsyndromic cleft lip and palate in Indian subpopulation (AU)