Abstract
BackgroundAutism spectrum disorder (ASD) evolves from an interplay between genetic and environmental factors during prenatal development. Since identifying maternal biomarkers associated with ASD risk in offspring during early pregnancy might result in new strategies for intervention, we investigated maternal metabolic biomarkers in relation to occurrence of ASD in offspring using both univariate logistic regression and multivariate network analysis.MethodsSerum samples from 100 women with an offspring diagnosed with ASD and 100 matched control women with typically developing offspring were collected at week 14 of pregnancy. Concentrations of 62 metabolic biomarkers were determined, including amino acids, vitamins (A, B, D, E, and K), and biomarkers related to folate (vitamin B9) metabolism, lifestyle factors, as well as C-reactive protein (CRP), the kynurenine-tryptophan ratio (KTR), and neopterin as markers of inflammation and immune activation.ResultsWe found weak evidence for a positive association between higher maternal serum concentrations of folate and increased occurrence of ASD (OR per 1 SD increase: 1.70, 95% CI 1.22–2.37, FDR adjusted P = 0.07). Multivariate network analysis confirmed expected internal biochemical relations between the biomarkers. Neither inflammation markers nor vitamin D3 levels, all hypothesized to be involved in ASD etiology, displayed associations with ASD occurrence in the offspring.ConclusionsOur findings suggest that high maternal serum folate status during early pregnancy may be associated with the occurrence of ASD in offspring. No inference about physiological mechanisms behind this observation can be made at the present time because blood folate levels may have complex relations with nutritional intake, the cellular folate status and status of other B-vitamins. Therefore, further investigations, which may clarify the potential role and mechanisms of maternal blood folate status in ASD risk and the interplay with other potential risk factors, in larger materials are warranted.
Highlights
Autism spectrum disorder (ASD) evolves from an interplay between genetic and environmental factors during prenatal development
We investigate a comprehensive panel of 62 serum biomarkers related to one-carbon metabolism, inflammation, and life-style and fat-soluble vitamins in first-trimester maternal blood samples
Serum vitamin D levels showed seasonal variations and were slightly higher in blood samples collected during the months from July to October (Additional file 2: Figure S2)
Summary
Autism spectrum disorder (ASD) evolves from an interplay between genetic and environmental factors during prenatal development. Autism spectrum disorder (ASD) is a developmental condition characterized by social communication and interaction challenges alongside with repetitive, stereotypic, restricted interests, and behaviors causing different levels of disability [1]. Genome sequencing data indicate hundreds of potential ASD risk genes, both rare and common variants [7,8,9]. In individuals with a genetic predisposition, a range of environmental factors have been proposed to increase ASD risk [7, 12]. Adverse health conditions during early pregnancy such as viral infections, inflammation, and immune activation are considered as risk factors for psychiatric disorders in the offspring [15,16,17,18,19]. Environmental factors may act via epigenetic mechanisms that are potentially modifiable and preventable [20]; the understanding of such risk factors may indicate a path to reduce incidence of ASD onset
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