Association of MTHFR, BMP4, TGFA and IRF6 Polymorphisms with Non-Syndromic Cleft lip and Palate in North Indian Patients

Background: Non-Syndromic Cleft Lip and Palate (NSCL/P) is a multifactorial birth defect. The world-wide prevalence of NSCL/P is 1 in 1000 live births; it differs with race, ethnicity and gender. The aim of the present study was to find out the status of candidate gene polymorphisms in NSCL/P cases and its association in phenotype of the patients. Methods: We have screened five polymorphisms in four candidate genes MTHFR (rs1801133, rs1801131) BMP4 (rs17563), TGFA (rs1146297) and IRF6 (rs2235371) by re-striction fragment length polymorphism and results were validated by Sanger se-quencing. Our dataset consists of 200 NSCL/P cases and 200 healthy controls from the Indian population. Statistical data analysis was performed by SPSS software. Results: MTHFR (rs1801133), BMP4 (rs175563) and TGFA (rs11466297) gene polymor-phisms showed significant association with NSCL/P and act as a risk factor in the Indi-an population (p=<0.05). However, MTHFR (rs1801131), and IRF6 (rs2235371) gene pol-ymorphisms did not show significant association with NSCL/P in the Indian popula-tion. Conclusion: The result of the study suggests an association between MTHFR (rs1801133), BMP4 (rs175563) and TGFA (rs11466297) polymorphisms with NSCL/P in Indian population.