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

K Xia, H Guo, G Xun, L Zuo, Y Peng, Y He, Z Xiong, L Sun, Q Pan, Z Long, X Zou, L Lu, Y Liu, D Tian, L Long, Y Liu, H Peng, X Luo, W Su, D LiangH Dai, X Yan, Y Feng, B Tang, Z Miedzybrodzka, J Xia, Z Zhang, X Luo, X Zhang, D St Clair, J Zhao, F Zhang

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48 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
JournalMolecular Psychiatry
Issue number11
Publication statusPublished - Nov 2014


  • African Americans
  • Asian Continental Ancestry Group
  • Autistic Disorder
  • China
  • Chromosomes, Human, Pair 1
  • Cohort Studies
  • DNA-Binding Proteins
  • European Continental Ancestry Group
  • GTP Phosphohydrolases
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Haplotypes
  • Humans
  • Membrane Proteins
  • Meta-Analysis as Topic
  • Polymorphism, Single Nucleotide
  • Prefrontal Cortex
  • RNA-Binding Proteins
  • Risk
  • Transcription Factors

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  • Cite this

    Xia, K., Guo, H., Xun, G., Zuo, L., Peng, Y., He, Y., Xiong, Z., Sun, L., Pan, Q., Long, Z., Zou, X., Lu, L., Liu, Y., Tian, D., Long, L., Liu, Y., Peng, H., Luo, X., Su, W., ... Zhang, F. (2014). Common genetic variants on 1p13.2 associate with risk of autism. Molecular Psychiatry, 19(11), 1212-1219.