后代自闭症的孕妇血清标志物探索
  • 纳入100名诊断为自闭症谱系障碍(ASD)的儿童的母亲孕14周血清样本,并匹配100名对照组孕妇样本;
  • 共检测血清中62种代谢物,包括氨基酸、各种维生素、各叶酸代谢产物、C反应蛋白等;
  • 各物质之间存在较强的交互作用,存在一定的关联性;
  • ASD组中总叶酸浓度高于对照组,每增加1个标准差,ASD风险增加1.7倍;
  • 其他物质在两组间分布无统计学差异;
  • 后代ASD发生与孕早期血清叶酸水平可能存在关联,但其生理机制有待进一步研究。
主编推荐语
小笋干儿
本研究利用病例对照研究,筛查孕早期母亲血清样本中叶酸及其相关的代谢产物的水平与后代自闭症(ASD)之间的关联。结果仅发现ASD组叶酸水平高,其他物质暂未发现与ASD的关联。该研究受到样本量的限制可能效率有限,且其中的机制有待进一步研究。
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Molecular Autism [IF:5.712]

Maternal blood folate status during early pregnancy and occurrence of autism spectrum disorder in offspring: a study of 62 serum biomarkers

母亲孕早期叶酸水平和后代自闭症谱系障碍的关联:一项包含62个生物标志物的研究

10.1186/s13229-020-0315-z

01-16, Article

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Background: Autism 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.
Methods: Serum 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.
Results: We 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.
Conclusions: Our 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.

First Authors:
Olga Egorova

Correspondence Authors:
Olga Egorova

All Authors:
Olga Egorova,Robin Myte,Jörn Schneede,Bruno Hägglöf,Sven Bölte,Erik Domellöf,Barbro Ivars A'roch,Fredrik Elgh,Per Magne Ueland,Sven-Arne Silfverdal

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