title: Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring.
abstract: Methylenetetrahydrofolate reductase (MTHFR) C677T and catechol-O-Methyltransferase (COMT) G158A are associated with a risk of neural tube defects (NTDs) in offspring. This study examined the effect of a MTHFR × COMT interaction on the risk of NTDs in a Chinese population with a high prevalence of NTDs. A total of 576 fetuses or newborns with NTDs and 594 controls were genotyped for MTHFRrs1801133, MTHFRrs1801131, and COMTrs4680 and COMTrs737865. Information on maternal sociodemographic characteristics, reproductive history, and related behavior was collected through face-to-face interviews. Possible interactions between genetic variants of MTHFR and COMT were examined. MTHFR C677T homozygous TT was associated with an elevated risk of total NTDs (odds ratio [OR] = 1.37, 95 % confidence interval [CI] = 0.93-2.03) and of anencephaly (OR = 1.67, 95 % CI = 0.98-2.84) compared with the CC genotype. There was a COMT rs737865 CC × MTHFR rs1801133 TT interaction for total NTDs (OR = 3.02, 95 % CI = 1.00-9.14) and for anencephaly (OR = 3.39, 95 % CI = 0.94-12.18). No interaction was found between COMT rs4680 AA/AG and MTHFR CT/TT genotypes for total NTDs or any subtype of NTD. The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs.
authors.affiliation: Institute of Reproductive and Child Health/Ministry of Health Key Laboratory of Reproductive Health; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, 38 College Rd, Haidian District, Beijing, 100191, China.
authors.forename: Jufen
authors.initials: J
authors.lastname: Liu
authors.forename: Yali
authors.initials: Y
authors.lastname: Zhang
authors.forename: Lei
authors.initials: L
authors.lastname: Jin
authors.forename: Guoxing
authors.initials: G
authors.lastname: Li
authors.forename: Linlin
authors.initials: L
authors.lastname: Wang
authors.forename: Yanping
authors.initials: Y
authors.lastname: Bao
authors.forename: Yunting
authors.initials: Y
authors.lastname: Fu
authors.forename: Zhiwen
authors.initials: Z
authors.lastname: Li
authors.forename: Le
authors.initials: L
authors.lastname: Zhang
authors.forename: Rongwei
authors.initials: R
authors.lastname: Ye
authors.forename: Aiguo
authors.initials: A
authors.lastname: Ren
mesh_terms: D000328:Adult; D000757:Anencephaly / Q000453:epidemiology / Q000235:genetics; D044466:Asian People; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009436:Neural Tube Defects / Q000453:epidemiology* / Q000235:genetics*; D010298:Parity; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D015995:Prevalence; D012306:Risk; D012959:Socioeconomic Factors
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C588010:COMT protein, human; D002394:Catechol O-Methyltransferase