Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome‐wide transmission disequilibrium test analysis of a newly genotyped autism case–parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 × 10⁻⁰⁵) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 × 10⁻⁰⁵) and rs7274133 (OR = 0.313, P = 3.22 × 10⁻⁰⁵) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 × 10⁻⁰⁵) at EEF1A2. Furthermore, a genome‐wide combined P‐value of individual SNPs in two independent case–parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome‐wide significance in the two samples of our study, they have been reported in a previous genome‐wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis‐regulatory association with mRNA in human tissues (false discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2020, 13: 382–396. © 2019 International Society for Autism Research, Wiley Periodicals, Inc.

中文翻译：

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自闭症的全基因组关联分析确定了多个基因座，这些基因座已被报告为神经精神疾病的有力信号。

自闭症是一种常见的神经发育疾病，具有中等至高度的遗传性，但仅少数解释遗传性的常见遗传变异与之相关。我们对汉族人中一种新基因型自闭症病例-父母三联症样本（127个三重奏）进行了全基因组传播不平衡测试分析，确定了多个单核苷酸多态性（SNP）的最高关联信号，包括rs9839376（OR = 2.59，P = 1.27×10 ^-05在）KCNMB2，rs6044680（OR = 0.319，P = 4.82×10 ^-05）和rs7274133（OR = 0.313，P = 3.22×10 ^-05）在PCSK2，和rs310619（OR = 2.40，P= 7.44×10 ^-05）在EEF1A2处。此外，在两个独立的个案双亲三联样本（总共402个三联，n = 1,206）中，单个SNP的全基因组范围内的P值将EGFLAM，ZDHHC2，AGBL1和SNX29的SNP识别为自闭症的其他关联信号。尽管在我们研究的两个样本中这些信号均未达到全基因组意义，但先前的神经精神疾病全基因组关联研究已报告了这些信号，并且大多数这些SNP具有显着的顺式作用。与人体组织中的mRNA的调节关联（错误发现率（FDR）<0.05）。我们的研究需要进一步研究或复制与自闭症和其他神经精神疾病相关的其他样本。Autism Res 2020，13：382-396。©2019国际自闭症研究会，Wiley Periodicals，Inc.