Genome‐wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders
AUTISM RESEARCH(2020)
摘要
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 x 10(-05)) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 x 10(-05)) and rs7274133 (OR = 0.313, P = 3.22 x 10(-05)) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 x 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 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome-wide association study with two cohorts of autism case-parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome-wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders.
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关键词
autism,genome-wide association study,transmission disequilibrium test,neuropsychiatric disorders
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