Resequencing and association analysis of GAP43 with autism spectrum disorder and schizophrenia in a Japanese population

Growth-associated protein 43 (GAP43), a synaptic involved in axonal growth and plasticity, is implicated the pathophysiology of autism spectrum disorder (ASD) schizophrenia. To examine role rare GAP43 variants genetic etiology ASD schizophrenia Japanese population, we performed resequencing association analysis. First, resequenced coding region 295 patients, 323 patients 304 controls. Second, genotyped rs561268447 273 1,150 1,022 Third, an analysis 568 1,473 10,127 We identified putatively damaging missense variant (rs561268447) patient via resequencing. However, did not detect 2,445 individuals genotyping. The was significantly associated with or This study does provide evidence for contribution to susceptibility population.