期刊
PSYCHIATRY RESEARCH
卷 316, 期 -, 页码 -出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.psychres.2022.114792
关键词
Autism spectrum disorder; Disco-interacting protein 2 homolog C gene; Single nucleotide polymorphisms; Clinical phenotypes
类别
资金
- Ministry of Science and Technology of the People?s Republic of China [2015DFA31580]
- Science and Technology Department of Jilin Province [20150101130JC]
- Jilin Provincial Key Laboratory of Neuronal Plasticity [20140622001JC, 20160622020JC]
- Health science and Technology capacity Improvement project of Jilin Province [2021GW009]
- Jilin Provincial College Students Innovation project [S202110201057]
The polymorphisms of DIP2C gene are significantly associated with susceptibility and clinical phenotypes of autism spectrum disorder.
Background: Disco-interacting protein 2 C (DIP2C) has recently been reported as a new susceptibility gene for autism spectrum disorder (ASD) in a genome-wide association study.Methods: We evaluated associations between single nucleotide polymorphisms (SNPs) of DIP2C and ASD susceptibility in a case-control study (715 ASD cases and 728 controls) from Chinese Han. Results: We identified a significant association between SNPs (rs3740304, rs2288681, rs7088729, rs4242757, rs10795060, and rs10904083) and ASD susceptibility. Of note, rs3740304, rs2288681, and rs7088729 are positively associated with ASD under inheritance models; moreover, haplotypes with any two marker SNPs (rs3740304 [G], rs2288681 [C], rs7088729 [T], rs4242757 [C], rs10795060 [G], and rs10904083 [A]) are also significantly associated with ASD. Additionally, rs10795060 and rs10904083 are associated with visual reaction phenotypes of ASD.Conclusions: DIP2C polymorphisms sort out the susceptibility and clinical phenotypes of autism spectrum disorder.
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