Study of the association between Schizophrenia and microduplication at the 16p11.2 locus in the Han Chinese population

Abstract Copy number variants are essential in the etiology of Schizophrenia. We assessed the role of the 16p11.2 locus in the pathogenesis of Schizophrenia in the Han Chinese population. In total, 659 patients with Schizophrenia and 650 healthy controls were genotyped and followed by a meta-analysis, involving 9384 patients and 15,457 controls. We found the microduplications at the 16p11.2 locus to be strongly associated with the SZ. The frequency of this microduplication is significantly higher in Schizophrenia patients than in healthy controls. These results highlight the role of the 16p11.2 locus in the development of SZ in the Han Chinese population.