Impact of gene polymorphisms involved in the vitamin D metabolic pathway on the susceptibility to and severity of autism spectrum disorder

This study explores the association between genetic variations in the vitamin D pathway and autism spectrum disorder (ASD) susceptibility and severity in Thai children. A total of 276 participants, including 169 children with ASD and 107 healthy controls, were recruited. Genotyping of vitamin D path...

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Bibliographic Details
Published in:	Scientific reports Vol. 14; no. 1; pp. 28333 - 11
Main Authors:	Saechua, Chanarong, Sarachana, Tewarit, Chonchaiya, Weerasak, Trairatvorakul, Pon, Yuwattana, Wasana, Poolcharoen, Chayanit, Sangritdech, Montira, Saeliw, Thanit, van Erp, Marlieke Lisanne, Sangsuthum, Siriporn, Akarapredee, Natthakul, Tipnoppanon, Sayanit, Sukprasong, Rattanaporn, Satapornpong, Patompong, Atasilp, Chalirmporn, Sukasem, Chonlaphat, Vanwong, Natchaya
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 16-11-2024 Nature Publishing Group Nature Portfolio
Subjects:	631/208 631/378 692/308 692/4017 692/499 692/699 692/700 Autism Autism spectrum disorder Chemiluminescence Children Gc gene Gene polymorphism Genetic diversity Genotyping Haplotypes Humanities and Social Sciences Metabolic pathways multidisciplinary Polymorphism Science Science (multidisciplinary) Thai Children Vitamin D Vitamin D gene polymorphisms Vitamin D receptors Thai Children Vitamin D gene polymorphisms Autism spectrum disorder
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Summary:	This study explores the association between genetic variations in the vitamin D pathway and autism spectrum disorder (ASD) susceptibility and severity in Thai children. A total of 276 participants, including 169 children with ASD and 107 healthy controls, were recruited. Genotyping of vitamin D pathway genes ( CYP2R1 , CYP27B1 , GC , and VDR ) was conducted using TaqMan-based real-time PCR, while serum vitamin D levels were measured by chemiluminescence immunoassay. ASD severity was assessed via the Childhood Autism Rating Scale, 2nd Edition. Results reveal that the VDR gene (ApaI) rs7975232 is linked to a reduced ASD risk. In contrast, the GC gene rs7041 (A > C) polymorphism shows a significant association with increased ASD risk and severity, particularly in individuals with both the GC gene polymorphism and vitamin D insufficiency. Additionally, there was a higher prevalence of the GC1s isoform and GC1s-GC1s haplotype in children with ASD, associated with ASD severity. This study identified that individuals possessing GC rs7041 C alleles and the GC1s genotype (rs7041 C /rs4588 G ) exhibit an increased susceptibility to and more severity of ASD. Further studies with larger cohorts are essential to fully understand these genetic polymorphisms’ roles.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2045-2322 2045-2322
DOI:	10.1038/s41598-024-79994-9