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Autism is a highly heritable neurodevelopmental disorder,known genetic variants,mostly rare,only account for a small proportion of cases.We performed genome wide association study,karyotype analysis and genome wide copy number variation studyusing large cohort of autism patients from Chinese population.Genome wide association study identified that three single nucleotide polymorphisms and related haplotypes at AMPD1-NRAS-CSDE1,TRIM33 and TRIM33-BCAS2 are associated,all are mapped to a linkage region(1p13.2),with autism.These associations are supported by cis-association with gene expressions of CSDE1,NRAS and TRIM33 in the human prefrontal cortex and by differential expression of CSDE1 and TRIM33 in the postmortem brains of subjects with and without autism.Karyotype analysis and genome wide copy number variation studyidentified 10 individuals with chromosome abnormality and 23 individualswith CNVs involving greater than a megabase of genomic region.We also performed candidate resequencingof neural synapse related genes and identified de novo mutations in NRXN1 and NLGNs.