The Association between Folate Pathway Genes and Cleft Lip With or Without Cleft Palate in a Chinese Population / 生物医学与环境科学（英文）

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.

Association of methylenetetrahydrofolate reductase A1298C polymorphisms with non-syndromic cleft lip with or without cleft palate / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the association between a polymorphism of methylenetetrahydrofolate reductase with Non-syndromic cleft lip with or without cleft palate (NSCL/P) in Chinese population.</p><p><b>METHODS</b>The polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) technique was used to detect a single nucleotide polymorphism (SNP), rs1801131, at the methylenetetrahydrofolate reductase (MTHFR) gene in both 158 patients with NSCL/P and 192 healthy individuals. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was applied to perform the association analysis.</p><p><b>RESULTS</b>The genotypic distribution of A1298C was not deviated from the Hardy-Weinberg equilibrium in both controls and patients. No association was found between cleft lip with or without palate (CL/P) and controls. There was significant difference of cleft palate only (CPO) and the healthy individuals (χ(2) = 4.256, P = 0.039). The frequency of AC + CC genotype was higher in control group than that in CPO group (OR = 0.8, 95%CI = 0.381 - 1.683), 26 among 100 healthy individuals carried AC + CC genetypes, which were carried by 22% of CPO patients.</p><p><b>CONCLUSIONS</b>The polymorphism of MTHFR A1298C may be involved in the occurrence of non-syndromic cleft palate only in Chinese population.</p>