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 between SNAP25 and autism in the Han Chinese population remains unclear. To investigate whether single nucleotide polymorphisms (SNPs) in SNAP25 contribute to the risk of autism, we performed a family-based association study of 14 tagSNPs in SNAP25 in 640 Han Chinese autism trios. Our results demonstrated that rs363018 in SNAP25 was 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 that SNAP25 may represent a susceptibility gene for autism in the Han Chinese population.

自闭症是一种具有高度遗传性的神经发育障碍。突触体相关蛋白 25 ( SNAP25 ) 编码突触前膜结合蛋白。它在神经传递中起着至关重要的作用，可能参与自闭症的发病机制。然而，SNAP25与汉族人群自闭症之间的关联仍不清楚。为了研究SNAP25 中的单核苷酸多态性 (SNP)是否会导致自闭症风险，我们对 640 名汉族自闭症三人组中的SNAP25中的 14 个 tagSNP 进行了基于家族的关联研究。我们的结果表明，SNAP25 中的rs363018在两种加法下都与自闭症显着相关（A > G，Z = 3.144，P = .0017) 和 Bonferroni 校正后的隐性模型 (A > G, Z = 3.055 , P = .0023) ( P  < .0036)。另一个 SNP，rs8636，在隐性模型下名义上与自闭症相关（C > T，Z = 1.972，P  = .0487）。基于单倍型的关联测试显示 rs363018-rs362582 的单倍型 AT (Z = 2.038, P  = .0415) 和 GT (Z = -3.114, P = .0018) 在置换测试后与自闭症显着相关 ( P  = .0158 ）。这些发现表明SNAP25可能代表了汉族人群中自闭症的易感基因。