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

Research output: Contribution to journalArticlepeer-review

70 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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