Relationship of MTHFD1 G1958A and CBS 844ins68 polymorphism with congenital heart defects in North Indian population (Jammu and Kashmir): A case-control study

Objectives: There are many multifactorial causes for Congenital Heart Defects (CHDs) in which both genetic and non-genetic factors play role. MTHFD1 CBS two of the key enzymes that plays pivotal role metabolic pathway homocysteine. Most studies revealed genes involved folate/homocysteine pathways occurrence CHDs. The present study was planned to investigate common polymorphisms gene children with CHD Jammu region Kashmir UT. Material Methods: A total 160 (80 patients 80 controls) were enrolled case-control study. After extraction genomic DNA genotyping SNP G1958A(rs2236225) done by PCR-RFLP 844ins68 polymorphism PCR technique. Results: Our results show there is no significant association between MTHFD1G1958A CHD. In case G1958A allele found be higher patient control group inCBS frequency risk ‘I’ cases (0.06) as compared controls (0.04). homozygous genotype (II) absent group. Conclusion: We conclude not factor development population