Two-sample Mendelian randomization study on the causal associationbetween neural cell adhesion molecule-L1 and autism spectrum disorder

CAI Mingxuan; WU Huiwen

doi:10.11852/zgetbjzz2024-1405

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Chinese Journal of Child Health Care ›› 2025, Vol. 33 ›› Issue (11) : 1218-1222. DOI: 10.11852/zgetbjzz2024-1405

Two-sample Mendelian randomization study on the causal associationbetween neural cell adhesion molecule-L1 and autism spectrum disorder

CAI Mingxuan, WU Huiwen

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Abstract

Objective To analyze the causal relationship between neural cell adhesion molecule-L1 (NCAM-L1) and autism spectrum disorder (ASD) using Mendelian randomization (MR) analysis, in order to identify biological markers for early recognition of ASD in children. Methods Genetic variants of NCAM-L1 were selected as instrumental variables, analyzed in a two-sample MR analysis was performed on the ASD related genetic variation dataset obtained from the publicly available IEU Open GWAS database. Results The MR analysis revealed a negative correlation between NCAM-L1 and the relative risk of ASD using the inverse variance weighted (IVW) method (OR=0.933, 95%CI: 0.829-1.053, P=0.016).A similar association was observed using the weighted median method (OR=0.908, 95%CI: 0.786-1.034, P=0.046).No evidence of horizontal pleiotropy or heterogeneity was detected among the instrumental variables.Sensitivity analysis, including leave-one-out tests and scatterplot visualization, confirmed the robustness of the findings. Conclusion The two-sample MR analysis suggests a causal relationship between NCAM-L1 and ASD, indicating that lower levels of NCAM-L1 are associated with an increased risk of developing ASD.

Key words

autism spectrum disorder / neuronal cell adhesion molecule-L1 / Mendelian randomization / causal relationship

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CAI Mingxuan, WU Huiwen. Two-sample Mendelian randomization study on the causal associationbetween neural cell adhesion molecule-L1 and autism spectrum disorder[J]. Chinese Journal of Child Health Care. 2025, 33(11): 1218-1222 https://doi.org/10.11852/zgetbjzz2024-1405

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