Association of MTR, MTRR and MTHFR gene polymorphisms in Non-Syndromic Cleft Lip and Palate in Paediatric patients in Northern India

Abstract

Non syndromic cleft lip and palate includes a wide spectrum of clinical variability from a simple unilateral lip scar to bilateral cleft lip and cleft palate. Folic acid can prevent the neural tube defects such as cleft lip and palate. Polymorphisms of the folate pathway genes causes disturbed activity of the key enzymes of folate metabolism which may be a contributing factor for the development of cleft lip and palate. Main enzymes of folate pathway such as methionine synthase, methionine synthase reductase and methylene tetrahydrofolate reductase are encoded by MTR, MTRR and MTHFR genes respectively. This research evaluates the association of MTR, MTRR and MTHFR gene polymorphisms in non-syndromic cleft lip and palate in northern Indian children.