DCC 多态性与自闭症谱系障碍易感性的关联。
Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder.
机构信息
Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun, 130021, China.
Chunguang Rehabilitation Hospital, Changchun, 130021, China.
出版信息
J Autism Dev Disord. 2020 Oct;50(10):3800-3809. doi: 10.1007/s10803-020-04417-3.
Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in DCC on the basis of a case-control study (231 ASD cases and 242 controls) in Chinese Han. We found that there was no association between ASD susceptibility and the seven SNPs in DCC; however, T-A haplotype (rs2229082-rs2270954), T-A-T-C haplotype (rs2229082-rs2270954-rs2292043-rs2292044), C-G-T-C-T haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043), C-G-T-C-T-G haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044), and G-G-T-C-C-C-C haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044-rs16956878) were associated with ASD susceptibility. Our results indicate that the haplotypes formed on the basis of the seven SNPs in DCC may be implicated in ASD.
自闭症谱系障碍 (ASD) 是一组儿童期起病的终身神经发育障碍。然而，缺失结肠直肠癌 (DCC) 基因中单核苷酸多态性 (SNP) 与 ASD 易感性之间的关联尚不清楚。我们基于中国汉族人群的病例对照研究 (231 例 ASD 病例和 242 例对照)，研究了 DCC 中七个 SNP 与 ASD 易感性之间的关系。我们发现，DCC 中七个 SNP 与 ASD 易感性之间没有关联；然而，T-A 单倍型 (rs2229082-rs2270954)、T-A-T-C 单倍型 (rs2229082-rs2270954-rs2292043-rs2292044)、C-G-T-C-T 单倍型 (rs934345-rs17753970-rs2229082-rs2270954-rs2292043)、C-G-T-C-T-G 单倍型 (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044) 和 G-G-T-C-C-C-C 单倍型 (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044-rs16956878) 与 ASD 易感性相关。我们的结果表明，DCC 中七个 SNP 形成的单倍型可能与 ASD 有关。
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