New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings

作者：Kotlar Alex V; Mercer Kristina B; Zwick Michael E; Mulle Jennifer G

来源：European Journal of Medical Genetics, 2015, 58(12): 704-714.

DOI：10.1016/j.ejmg.2015.10.008

• Schizophrenia genetics
• Psychiatric genetics
• Copy number variation
• GWAS

Schizophrenia research has undergone a recent transformation. By leveraging large sample sizes, genome-wide association studies of common genetic variants have approximately tripled the number of candidate genetic loci. Rare variant studies have identified copy number variants that are schizophrenia risk loci. Among these, the 3q29 microdeletion is now known to be the single largest schizophrenia risk factor. Next-generation sequencing studies are increasingly used for rare variant association testing, and have already facilitated identification of large effect alleles. Collectively, recent findings implicate voltage-gated calcium channel and cytoskeletal pathways in the pathogenesis of schizophrenia. Taken together, these results suggest the possibility of imminent breakthroughs in the molecular understanding of schizophrenia.

• 出版日期2015-12