MAOA, DBH, and SLC6A4 variants in CHARGE: a case-control study of autism spectrum disorders.

摘要: Genetic factors are established to contribute the development of autism. We examined three loci, serotonin transporter (SLC6A4), dopamine β-hydroxylase (DBH), and variable number tandem repeat promoter monoamine oxidase A (MAOA) for association with autism in participants from Childhood Autism Risks Genetics Environment (CHARGE ) Study, first large-scale population-based case–control investigation both environmental genetic contributions risk. Among male children enrolled CHARGE study we tested associations between each polymorphisms (AU) (n = 119), or a combined group other spectrum disorders (AU+ASD, which includes an additional n 53) as compared typically developing controls (TD, 137). The analysis showed neither SLC6A4 nor DBH be statistically significantly associated AU ASD. However, carrying 4 repeats region MAOA gene two-fold higher risk (or AU+ASD) than those allele 3, adjusted confounders (OR 2.02, 95% CI 1.12, 3.65, P 0.02 vs. TD, OR 2.05, 1.19, 3.53, 0.01 ASD TD). In addition, mothers homozygous at least three-fold 3 3.07, 7.91, 3.26, 1.35, 7.89, 0.009 AU+ASD These results suggest potential role functional alleles child, mother, Res2011,4:250–261. © 2011 International Society Research, Wiley Periodicals, Inc.