TGFA gene polymorphisms are not associated with the aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) in south Indian population

Introduction: Transforming Growth Factor Alpha (TGFA) plays a role in the development of the facial structures, including the lip and palate.Methodology: About 148 case/parent trios were genotyped for rs1058213, rs2166975, rs3771494, rs3821261 and rs426081 polymorphisms in TGFA gene. Transmission/disequilibrium test (TDT) and the parent-of-origin effects (POE) statistics were implemented. FAMHAP and Haploview packages were used to test the effect of multi-SNP haplotypes and linkage disequilibrium respectively. Results: At individual SNP level, TDT did not reveal significant excess transmission of parental alleles to their affected child. None of the analysed markers showed significant POE. Significant LD between SNPs of rs1058213, rs2166975 and rs377149, rs3821261 were observed. Analysis multi -SNP haplotypes did not reveal significant excess transmission of haplotypes to the affected child.Conclusion: Analysis of TDT and POE of five SNPs in TGFA gene indicated that the TGFA is not associated with the aetiology of NSCL/P.