Peking University Sixth Hospital, Beijing 100191, China; Peking University Institute of Mental Health, Beijing 100191, China; NHC Key Laboratory of Mental Health (Peking University), Beijing 100191, China; National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing 100191, China.
Peking University Sixth Hospital, Beijing 100191, China; Peking University Institute of Mental Health, Beijing 100191, China; NHC Key Laboratory of Mental Health (Peking University), Beijing 100191, China; National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing 100191, China.
Prog Neuropsychopharmacol Biol Psychiatry. 2021 Mar 8;105:109985. doi: 10.1016/j.pnpbp.2020.109985. Epub 2020 May 29.
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遗传性的神经发育障碍。突触相关蛋白 25（SNAP25）编码一种突触前膜结合蛋白。它在神经递质传递中起着至关重要的作用，可能与自闭症的发病机制有关。然而，SNAP25 与汉族人群自闭症之间的关联尚不清楚。为了研究 SNAP25 中的单核苷酸多态性（SNPs）是否导致自闭症的风险增加，我们对 640 个汉族自闭症三核苷酸进行了 SNAP25 中 14 个标签 SNPs 的基于家系的关联研究。我们的结果表明，SNAP25 中的 rs363018 在加性模型（A>G，Z=3.144，P=0.0017）和隐性模型（A>G，Z=3.055，P=0.0023）下与自闭症显著相关，经 Bonferroni 校正后（P<0.0036）。另外一个 SNP，rs8636，在隐性模型下与自闭症呈名义相关（C>T，Z=1.972，P=0.0487）。基于单体型的关联检验表明，rs363018-rs362582 的单体型 A-T（Z=2.038，P=0.0415）和 G-T（Z=-3.114，P=0.0018）与自闭症显著相关，经置换检验后（P=0.0158）。这些发现表明，SNAP25 可能是汉族人群自闭症的易感基因。
