Family-based association study identifies SNAP25 as a susceptibility gene for autism in the Han Chinese population
Family-based association study identifies SNAP25 as a susceptibility gene for autism in the Han Chinese population
复制标题
以家庭为基础的关联研究确定SNAP25是中国汉族人群中自闭症的易感基因
DOI：
10.1016/j.pnpbp.2020.109985
复制
发表时间：
2021-03-08
影响因子：
5.6
通讯作者：
Wang，Lifang
中科院分区：
文献类型：
--
作者：
Wang，Ziqi;Li，Jun;Wang，Lifang
Autism is a neurodevelopmental disorder with high heritability. Synaptosome associated protein 25 (SNAP25) encodes a presynaptic membrane-binding protein. It plays a crucial role in neurotransmission and may be involved in the pathogenesis of autism. However, the association betweenSNAP25and autism in the Han Chinese population remains unclear. To investigate whether single nucleotide polymorphisms (SNPs) inSNAP25contribute to the risk of autism, we performed a family-based association study of 14 tagSNPs inSNAP25in 640 Han Chinese autism trios. Our results demonstrated that rs363018 inSNAP25was significantly associated with autism under both additive (A > G, Z = 3.144,P= .0017) and recessive models (A > G, Z = 3.055,P= .0023) after Bonferroni correction (P< .0036). An additional SNP, rs8636, was nominally associated with autism under the recessive model (C > T, Z = 1.972,P= .0487). Haplotype-based association test revealed that haplotypes A-T (Z = 2.038,P= .0415) and G-T (Z = −3.114,P= .0018) of rs363018-rs362582 were significantly associated with autism after the permutation test (P= .0158). These findings suggest thatSNAP25may represent a susceptibility gene for autism in the Han Chinese population.
