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Integrative analyses indicate an association between ITIH3 polymorphisms with autism spectrum disorder
Xinyan Xie1, Heng Meng1, Hao Wu1
1Department of Maternal and Child Health and MOE (Ministry of Education) Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Scientific Reports
|April 7, 2020
Summary
Identifying functional genetic variants for autism spectrum disorder (ASD) is challenging. This study found that the ITIH3 gene variant rs2535629 may decrease ASD risk, offering a potential biomarker for the neurodevelopmental condition.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Pinpointing functional genetic variants among numerous candidates is a significant challenge in genetic research.
- Investigating spatial dynamics of the human brain transcriptome and expression quantitative trait loci (eQTL) data can help identify functional variants in autism spectrum disorders (ASD).
Purpose of the Study:
- To explore the association between the ITIH3 gene and ASD.
- To identify functional variants contributing to ASD susceptibility.
Main Methods:
- Analyzed spatial-temporal expression of ITIH3 in the developing human brain using Allen Institute data.
- Examined cis-acting regulatory effects of SNPs on ITIH3 expression via the UK Brain Expression Consortium.
- Validated identified SNPs using a case-control study (602 cases, 604 controls).
Main Results:
- Public expression data indicated ITIH3's potential role in human brain development.
- A cis-eQTL effect for rs2535629 and rs3617 on ITIH3 was observed in the hippocampus.
- The over-dominant model of rs2535629 was significantly associated with decreased ASD risk.
Conclusions:
- Convergent evidence supports ITIH3 rs2535629 as a susceptibility variant for ASD.
- The findings suggest rs2535629 as a potential biomarker for ASD risk.
- ITIH3's role in brain development warrants further investigation in the context of ASD.
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