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Published on: September 6, 2024
DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder
Yan Li1, Chuanyong Sun2, Yanbo Guo3
1Department 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.
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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