Dataset Information

ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.

ABSTRACT: Increasing alcohol consumption by women of childbearing age contributes to more frequent cases of fetal alcohol spectrum disorder. The cause of the syndrome is fetal alcohol exposure, particularly what is referred to as high prenatal alcohol exposure. Low metabolic activity of fetal enzymes shifts the burden of ethanol removal to maternal metabolism. One of the factors influencing the pathogenesis of FASD is the genetic background. It can determine the rate of elimination of ethanol, thus increasing or decreasing the time of fetal exposure to ethanol and also decreasing its concentration. Genetic polymorphisms could potentially play a significant role in these processes. In the present study, we considered three polymorphisms of genes implicated in the synthesis of enzymes involved in ethanol metabolism, i.e., ADH1b (rs1229984), ADH1b/c (rs1789891), and CYP2E1 (rs3813867). The studied group consisted of 303 children and 251 mothers. Both mothers' and children's genotypes were considered in our analysis. There were no statistically significant differences between the respective groups of genotypes of the studied polymorphisms. However, the genetic background of FASD is still elusive.

SUBMITTER: Kukowka A

PROVIDER: S-EPMC10379323 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

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ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.

Kukowka Arnold A Brzuchalski Bogusław B Kurzawski Mateusz M Malinowski Damian D Białecka Monika Anna MA

Genes 20230702 7

Increasing alcohol consumption by women of childbearing age contributes to more frequent cases of fetal alcohol spectrum disorder. The cause of the syndrome is fetal alcohol exposure, particularly what is referred to as high prenatal alcohol exposure. Low metabolic activity of fetal enzymes shifts the burden of ethanol removal to maternal metabolism. One of the factors influencing the pathogenesis of FASD is the genetic background. It can determine the rate of elimination of ethanol, thus increa ...[more]

PMID: 37510297

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Project description:Background: Fetal alcohol spectrum disorder (FASD) is a developmental disorder that manifests through a range of cognitive, adaptive, physiological, and neurobiological deficits resulting from prenatal alcohol exposure. Although the North American prevalence is currently estimated at 2-5%, FASD has proven difficult to identify in the absence of the overt physical features characteristic of fetal alcohol syndrome. As interventions may have the greatest impact at an early age, accurate biomarkers are needed to identify children at risk for FASD. Building on our previous work identifying distinct DNA methylation patterns in children and adolescents with FASD, we have attempted to validate these associations in a different clinical cohort and to use our DNA methylation signature to develop a possible epigenetic predictor of FASD. Methods: Genome-wide DNA methylation patterns were analyzed using the Illumina HumanMethylation450 array in the buccal epithelial cells of a cohort of 48 individuals aged 3.5-18 (24 FASD cases, 24 controls). The DNA methylation predictor of FASD was built using a stochastic gradient boosting model on our previously published dataset FASD cases and controls (GSE80261). The predictor was tested on the current dataset and an independent dataset of 48 autism spectrum disorder cases and 48 controls (GSE50759). Results: We validated findings from our previous study that identified a DNA methylation signature of FASD, replicating the altered DNA methylation levels of 161/648 CpGs in this independent cohort, which may represent a robust signature of FASD in the epigenome. We also generated a predictive model of FASD using machine learning in a subset of our previously published cohort of 179 samples (83 FASD cases, 96 controls), which was tested in this novel cohort of 48 samples and resulted in a moderately accurate predictor of FASD status. Upon testing the algorithm in an independent cohort of individuals with autism spectrum disorder, we did not detect any bias towards autism, sex, age, or ethnicity. Conclusion: These findings further support the association of FASD with distinct DNA methylation patterns, while providing a possible entry point towards the development of epigenetic biomarkers of FASD.

Project description:AimTo explore the lived experiences of adolescents with fetal alcohol spectrum disorder (FASD) to understand: the ways in which their challenges influence daily functioning; and the personal assets and external resources that facilitate participation.MethodSemi-structured interviews were conducted with four adolescents (one identified as non-binary, one male, and two female) with FASD aged 13 to 15 years. A photo elicitation approach facilitated participation, whereby adolescents first took photographs of their daily activities and environments. Photographs were subsequently used to generate discussion during the interviews. Data analysis involved using interpretative phenomenological analysis to generate themes.ResultsTwo superordinate themes and three subthemes relating to participants' lived experiences emerged from the interviews: (1) 'anxiety challenges participation' (subthemes [i] 'need for external support'; [ii] 'the power of positive relationships'; and [iii] 'talents and interests facilitate participation') and (2) 'importance of a unique identity'.InterpretationFindings illustrated the barriers adolescents experienced regarding their daily functioning and independence. Additionally, incorporating strengths into daily activities appeared to reduce anxiety and improve participation, and adolescents desired for their unique characteristics to be recognized and appreciated. To support adolescents with FASD, service providers should consider incorporating strengths-based approaches and an explicit focus on facilitating the development of positive self-identities.What this paper addsAnxiety often prevented adolescents' independent participation in social activities, requiring caregiver assistance. Strengths (e.g. talents, positive relationships) facilitated adolescents' participation and reduced their anxiety. Clinicians and researchers should consider strengths-based approaches to interventions targeting participation. Interventions for adolescents with fetal alcohol spectrum disorder could focus on developing a positive self-identity.

Dataset Information

ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.

Publications

<i>ADH1B</i>, <i>ADH1B/C</i> and <i>CYP2E1</i> Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.

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