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Background  Disrupted-in-Schizophrenia 1 ( DISC1 ) gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that  DISC1  polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether  DISC1  is associated with autism in Chinese Han population, we performed a family-based association study between  DISC1  polymorphisms and autism.    Methods  We genotyped seven tag single nucleotide polymorphisms (SNPs) in  DISC1 , spanning 338 kb, in 367 autism trios (singleton and their biological parents) including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT) and Haploview software.    Results  We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872,  p  = 0.004; rs11585959: T > C, Z = 2.199,  p  = 0.028; rs6668845: A > G, Z = 2.326,  p  = 0.02). After the Bonferroni correction, SNP rs4366301, which located in the first intron of  DISC1 , remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical  p  values.    Conclusions  Our study provided evidence that the  DISC1  may be the susceptibility gene of autism. It suggested  DISC1  might play a role in the pathogenesis of autism.

behavioral and brain functions

Evidence for association between Disrupted-in-schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study