Common genetic variants on 1p13.2 associate with risk of autism

Kun Xia, Hui Guo, Zheng Mao Hu, Guang Lei Xun, Ling Jun Zuo, Yu Peng, Ke Sheng Wang, Yi Qun He, Zhi Min Xiong, Liang Dan Sun, Qian Pan, Zhi Gao Long, Xiao Bing Zou, Xia Li, Wei Li, Xiao Juan Xu, Li Na Lu, Y Liu, Yi Qiao Hu, Di TianLi Wei Long, Jian Jun Ou, X Li, Lu Si Zhang, Yin Lin Pan, Jia Chen, Hao Peng, Qin Lai Liu, Xue Rong Luo, Wei Su, Ling Qian Wu, De Sheng Liang, H Dai, Xin Xiang Yan, Yong Feng, Bei Sha Tang, Jun Li, Zosia Miedzybrodzka, Jia Hui Xia, Zhuohua Zhang, Xing Guang Luo, X Zhang, David St Clair, Jing Ping Zhao, Feng Yu Zhang

    Research output: Contribution to journalArticlepeer-review

    65 Citations (Scopus)


    Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10 -8), non-synonymous rs6537835 (P=3.26 × 10 -8) and rs1877455 (P=8.70 × 10 -8), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.

    Original languageEnglish
    Pages (from-to)1212-1219
    Number of pages8
    Issue number11
    Publication statusPublished - 5 Nov 2014


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