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.
Northeast Asian Studies Center, Jilin University, Changchun 130021, China.
Psychiatry Res. 2022 Oct;316:114792. doi: 10.1016/j.psychres.2022.114792. Epub 2022 Aug 14.
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.
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.
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.
DIP2C polymorphisms sort out the susceptibility and clinical phenotypes of autism spectrum disorder.
Disco-interacting protein 2 C（DIP2C）最近在全基因组关联研究中被报道为自闭症谱系障碍（ASD）的一个新的易感基因。
我们在中国汉族人群的病例对照研究（715 例 ASD 病例和 728 例对照）中评估了 DIP2C 单核苷酸多态性（SNP）与 ASD 易感性之间的关系。
我们发现 SNP（rs3740304、rs2288681、rs7088729、rs4242757、rs10795060 和 rs10904083）与 ASD 易感性之间存在显著关联。值得注意的是，rs3740304、rs2288681 和 rs7088729 在遗传模型下与 ASD 呈正相关；此外，任何两个标记 SNP（rs3740304[G]、rs2288681[C]、rs7088729[T]、rs4242757[C]、rs10795060[G]和 rs10904083[A]）的单体型也与 ASD 显著相关。此外，rs10795060 和 rs10904083 与 ASD 的“视觉反应”表型相关。
DIP2C 多态性可揭示自闭症谱系障碍的易感性和临床表型。
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