Genetics and Epigenetics of Psychiatric Diseases


Psychiatric diseases have a highly complex etiology, aggregating in families but not segregating in a traditional Mendelian manner. Recent approaches to understanding the causes of psychiatric disease have focused on describing the genetic contribution to major psychiatric illnesses; the use of large-scale genome-wide association studies (GWAS) and exome sequencing has enabled a systematic exploration of genetic risk factors and identified over 100 independent genomic loci significantly associated with psychiatric diseases; however, there remains uncertainty about the causal genes involved in disease pathogenesis, and how their function is regulated. Since many GWAS variants reside in non-coding regions, the disease-associated common variants might be enriched in regulatory domains, including enhancers and regions of active chromatin state. These lead us to focus on the possible role of non-sequence-based genomic variation in health and disease. Of particular interest are epigenetic modifications that regulate gene expression through modifications to DNA, RNA, histone proteins, and chromatin. The availability of high-throughput profiling methods for quantifiying epigenomic modifications in large numbers of samples has enabled us to perform epigenome-wide association studies (EWAS) aimed at screening methylomic variations associated with environmental exposure and disease. Thus systematic integration of genetic, epigenetic and epidemiological approaches will contribute to improving our understanding of the molecular mechanisms underlying disease phenotypes.

IPGGS Research Topic welcomes contributions from genetic and epigenetic perspectives covering novel approaches to studying the phenotypes and the herterogensity of psychiatric diseases, including, but not limited to schizophrenia, bipolar disorder, autism spectrum disorder, and major depression, as well as various methodological and statistical approaches to disease association with genetic or epigenetic variants, including SNV, CNV, non-coding RNA, 6mA, or 5mC/5hmC. etc. Relevant animal models and in vitro human induced pluripotent stem cell (hiPSC) studies are welcomed as well.

All type of articles may be submitted for this Research Topic. Submissions can be done either at Editorial tracking system or through mail to

Media Contact:

Kathy Andrews
Managing Editor
Journal of Genomics & Gene Study