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Abstract
BackgroundThe disco-interacting protein 2 homolog A gene (DIP2A) has been reported as a novel candidate gene of Autism spectrum disorder (ASD). Associations between single nucleotide polymorphisms (SNPs) and ASD behavior phenotypes provide an opportunity to timely treat an infant with potential ASD by earlier intervention targeting a specific behavior phenotype. MethodsThe association of SNPs (rs8130538, rs1007893, rs34736293, rs7279002, rs2070435, rs2255397, rs1107065,rs2248636) of DIP2A with both ASD susceptibility and ASD behaviour phenotypes were investigated in Chinese Han population using a case- control study on the basis of 231 ASD cases and 242 controls. ResultsThe allele frequencies and genotype distributions of the eight SNPs of DIP2A in the cases were not different from those in the controls; the eight DIP2A SNPs were not associated with ASD risk under the five geneticmodels; and haplotypes were not different between the cases and the controls ConclusionsWe identified that rs1007893 and rs2070435 in DIP2A are associated with "visual reaction" behavior phenotype in Chinese Han population.
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