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.