ArticleWorld journal of psychiatry2025
Association of folate metabolism gene polymorphisms with autism susceptibility and symptom severity in the Chinese population.
Article in World journal of psychiatry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundFolate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder (ASD). However, most studies have primarily used single candidate gene typing strategies (such as targeted polymerase chain reaction technology), and current findings remain inconsistent.
aimTo investigate the association of folate metabolism gene polymorphisms with ASD susceptibility and symptom severity among Chinese children.
methodsWhole-exome sequencing (WES) was conducted to systematically screen for coding region variants of key genes in the folate metabolism pathway among children with ASD, focusing on identifying polymorphisms with high mutation frequencies and potential pathogenic effects. A case-control study was then conducted to explore the association of candidate folate metabolism gene polymorphisms with the susceptibility and severity of ASD.
resultsWES was performed on 70 children with ASD, and the case-control study included 170 children with ASD and 170 healthy controls. WES revealed that 84.3% (59/70) of children with ASD carried potentially pathogenic variants enriched in folate metabolism pathways.
conclusionMost children with ASD carry deleterious variants in folate metabolism-related pathways.
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