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

Yan Li; Chuanyong Sun; Yanbo Guo; Shuang Qiu; Yong Li; Yunkai Liu; Weijing Zhong; Hedi Wang; Yi Cheng; Yawen Liu

doi:10.1016/j.psychres.2022.114792

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

Psychiatry Res. 2022 Oct:316:114792. doi: 10.1016/j.psychres.2022.114792. Epub 2022 Aug 14.

Authors

Yan Li¹, Chuanyong Sun², Yanbo Guo³, Shuang Qiu³, Yong Li³, Yunkai Liu⁴, Weijing Zhong⁵, Hedi Wang⁶, Yi Cheng⁷, Yawen Liu⁸

Affiliations

¹ Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, China; Department of Epidemiology, School of Public Health, Beihua University, Jilin 132013, China; Institute of Health Sciences, China Medical University, Shengyang 110000, China.
² Northeast Asian Studies Center, Jilin University, Changchun 130021, China.
³ Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, China.
⁴ Institute of Translational Medicine, the First Hospital of Jilin University, Changchun 130021, China.
⁵ Chunguang Rehabilitation Hospital, Changchun, Jilin 130021, China.
⁶ Department of Epidemiology, School of Public Health, Beihua University, Jilin 132013, China.
⁷ Institute of Translational Medicine, the First Hospital of Jilin University, Changchun 130021, China. Electronic address: chengyi@jlu.edu.cn.
⁸ Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, China. Electronic address: ywliu@jlu.edu.cn.

PMID: 35987071
DOI: 10.1016/j.psychres.2022.114792

Abstract

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.

Keywords: Autism spectrum disorder; Clinical phenotypes; Disco-interacting protein 2 homolog C gene; Single nucleotide polymorphisms.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Autism Spectrum Disorder* / genetics
Case-Control Studies
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Neoplasm Proteins
Phenotype
Polymorphism, Single Nucleotide / genetics
Protein C / genetics

Substances

DIP2C protein, human
Neoplasm Proteins
Protein C