DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder.

Psychiatry Res

Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, China. Electronic address:

Published: October 2022

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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http://dx.doi.org/10.1016/j.psychres.2022.114792DOI Listing

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