Loss of function polymorphisms in NAT1 protect against spina bifida

摘要: Periconceptional folic acid supplementation reduces the risk of having a child with spina bifida. N-acetyltransferase 1 (NAT1) participates in catabolism folates and acetylation aromatic heterocyclic amines. Hence, functional polymorphisms NAT1, gene encoding could influence bifida via either folate or exogenous agents. Individuals their parents were genotyped for six NAT1 single nucleotide (SNPs) which less common allele is associated reduced absent enzyme activity (i.e. 97C>T, 190C>T, 559C>T/560G>A, 640T>G 752A>T). In addition, “composite” genotype was defined as function SNPs. Descriptive analyses SNPs composite indicated that heterozygous more likely to transmit than rare affected offspring. Furthermore, matings mothers homozygous fathers reciprocal matings. Log-linear confirmed both maternal (P = 0.008) offspring (P = 0.003) genotypes significantly related variants reduce abolish appear protect against bifida, exert genotypes. These associations may be attributable decrease conversion agents teratogenic derivatives women and/or developing embryos includes loss relative those who do not.