title: The Association between Folate Pathway Genes and Cleft Lip With or Without Cleft Palate in a Chinese Population.
abstract: 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.
authors.affiliation: Institute of Dental Research, Beijing Stomatological Hospital, School of Stomatology, Capital Medical University, Beijing 100050, China.
authors.forename: Ling Ling
authors.initials: LL
authors.lastname: Jin
authors.affiliation: Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
authors.forename: Er Jun
authors.initials: EJ
authors.lastname: Chen
authors.affiliation: First People's Hospital of Jinzhong, Jinzhong 030600, Shanxi, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Hou
authors.affiliation: First People's Hospital of Jinzhong, Jinzhong 030600, Shanxi, China.
authors.forename: Xin Hua
authors.initials: XH
authors.lastname: Liu
authors.affiliation: Institute of Dental Research, Beijing Stomatological Hospital, School of Stomatology, Capital Medical University, Beijing 100050, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Hu
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D005492:Folic Acid