Genetic studies of schizophrenia: an update

Jingchun Chen1, Fei Cao2, Lanfen Liu3, Lina Wang3, Xiangning Chen1

1Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA
2Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology,Wuhan 430022, China
3Department of Psychiatry, Shandong Mental Health Center, Jinan 250014, China
Corresponding author: Jingchun Chen. E-mail:

Schizophrenia (SCZ) is a complex and heterogeneous mental disorder that affects about 1% of global population. In recent years, considerable progress has been made in genetic studies of SCZ. A number of common variants with small effects and rare variants with relatively larger effects have been identified. These variants include risk loci identified by genome-wide association studies, rare copy-number variants identified by comparative genomic analyses, and de novo mutations identified by high-throughput DNA sequencing. Collectively, they contribute to the heterogeneity of the disease. In this review, we update recent discoveries in the field of SCZ genetics, and outline the perspectives of future directions.

Keywords: schizophrenia; genome-wide association study; copy-number variant; de novo mutation; sequencing; genetics

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