The Association between Folate Pathway Genes and Cleft Lip With or Without Cleft Palate in a Chinese Population

NSCL/P is a common congenital defect and gene-environmental factors involve in this disorder. Periconceptional intake of folate may reduce the risk of NSCL/P. The present study investigated three SNPs (rs1801198, rs955516, and rs3733890) in three folate pathway genes, including TCN2, MTR, and BHMT among 481 patients and 558 healthy subjects. Rs955516 showed allelic association with NSCL/P. More patients carry rs955516 AA and rs3733890 AA genotypes. The gene-gene interaction test showed trans-phase combination effects for MTR and BHMT genes. Our study suggests that the interaction of MTR and BHMT genes play a vital role in the pathogenesis of NSCL/P in Chinese population.