Evidence map›Paper›PMID 39550459›Full record

ArticleScientific reports2024

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

Chanarong Saechua, Tewarit Sarachana, Weerasak Chonchaiya, Pon Trairatvorakul, Wasana Yuwattana, Chayanit Poolcharoen, Montira Sangritdech, Thanit Saeliw, Marlieke Lisanne van Erp, Siriporn Sangsuthum and 7 more

Abstract read
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed.

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  6. Identification and Association ofCurrent issues in molecular biology · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Chanarong SaechuaThe M.Sc. Program in Clinical Biochemistry and Molecular Medicine, Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, 10330, Thailand.
Tewarit SarachanaDepartment of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn Autism Research and Innovation Center of Excellence (Chula ACE), Chulalongkorn University, Bangkok, 10330, Thailand.
Weerasak ChonchaiyaCenter of Excellence for Maximizing Children's Developmental Potential, Division of Growth and Development, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Pon TrairatvorakulCenter of Excellence for Maximizing Children's Developmental Potential, Division of Growth and Development, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Wasana YuwattanaThe Ph.D. Program in Clinical Biochemistry and Molecular Medicine, Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, 10330, Thailand.
Chayanit PoolcharoenThe M.Sc. Program in Clinical Biochemistry and Molecular Medicine, Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, 10330, Thailand.
Montira SangritdechDivision of Growth and Development, Department of Pediatrics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.
Thanit SaeliwDepartment of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn Autism Research and Innovation Center of Excellence (Chula ACE), Chulalongkorn University, Bangkok, 10330, Thailand.
Marlieke Lisanne van ErpThe Ph.D. Program in Clinical Biochemistry and Molecular Medicine, Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, 10330, Thailand.
Siriporn SangsuthumDepartment of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn Autism Research and Innovation Center of Excellence (Chula ACE), Chulalongkorn University, Bangkok, 10330, Thailand.
Natthakul AkarapredeeThe M.Sc. Program in Clinical Biochemistry and Molecular Medicine, Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, 10330, Thailand.
Sayanit TipnoppanonThe Ph.D. Program in Clinical Biochemistry and Molecular Medicine, Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, 10330, Thailand.
Rattanaporn SukprasongDivision of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Patompong SatapornpongDivision of General Pharmacy Practice, Department of Pharmaceutical Care, College of Pharmacy, Rangsit University, Pathum Thani, 12000, Thailand.
Chalirmporn AtasilpChulabhorn International College of Medicine, Thammasat University, Pathum Thani, 12120, Thailand.
Chonlaphat SukasemDivision of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand. chonlaphat.suk@mahidol.ac.th.
Natchaya VanwongDepartment of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn Autism Research and Innovation Center of Excellence (Chula ACE), Chulalongkorn University, Bangkok, 10330, Thailand. natchaya.v@chula.ac.th.

Funding

CU Graduate School Thesis Grant Chulalongkorn University GCUGR1225643066MFaculty of Allied Health Sciences, Chulalongkorn University Fund AHS-CU 65001Ratchadapisek Somphot Fund for Supporting Research Unit and Center of Excellence, Chulalongkorn University GRU 6300437001-1the NSRF via the Program Management Unit for Human Resources & Institutional Development, Research and Innovation B36G660008the Ratchadaphiseksomphot Endowment Fund, Chulalongkorn University CU_GR_63_58_37_05
6 · The paper itself

Abstract

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 (rs7041C/rs4588G) exhibit an increased susceptibility to and more severity of ASD. Further studies with larger cohorts are essential to fully understand these genetic polymorphisms' roles.

Indexed as

Autism Spectrum DisorderGenetic Predisposition to DiseasePolymorphism, Single NucleotideReceptors, CalcitriolVitamin DVitamin D-Binding Protein25-Hydroxyvitamin D3 1-alpha-HydroxylaseAllelesCase-Control StudiesChildChild, PreschoolCholestanetriol 26-MonooxygenaseCytochrome P450 Family 2FemaleGenotypeHaplotypes25-Hydroxyvitamin D3 1-alpha-HydroxylaseCholestanetriol 26-MonooxygenaseCYP27B1 protein, humanCYP2R1 protein, humanCytochrome P450 Family 2GC protein, humanReceptors, CalcitriolVDR protein, humanVitamin DVitamin D-Binding ProteinAutism spectrum disorderThai ChildrenVitamin D gene polymorphisms

Identifiers

PMID39550459
PMCPMC11569182

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.