Send to

Choose Destination
Gene. 2018 Mar 1;645:119-123. doi: 10.1016/j.gene.2017.12.025. Epub 2017 Dec 14.

Exome sequencing of a large family identifies potential candidate genes contributing risk to bipolar disorder.

Author information

Department of Epidemiology and Biostatistics, School of Public Health, Xi'an Jiaotong University, Shaanxi, China.
Human Genetics Branch, The National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, USA.
Department of Psychiatry, Washington University in Saint Louis, MO, USA.
Department of Psychiatry, Washington University in Saint Louis, MO, USA. Electronic address:


Bipolar disorder is a mental illness with lifetime prevalence of about 1%. Previous genetic studies have identified multiple chromosomal linkage regions and candidate genes that might be associated with bipolar disorder. The present study aimed to identify potential susceptibility variants for bipolar disorder using 6 related case samples from a four-generation family. A combination of exome sequencing and linkage analysis was performed to identify potential susceptibility variants for bipolar disorder. Our study identified a list of five potential candidate genes for bipolar disorder. Among these five genes, GRID1(Glutamate Receptor Delta-1 Subunit), which was previously reported to be associated with several psychiatric disorders and brain related traits, is particularly interesting. Variants with functional significance in this gene were identified from two cousins in our bipolar disorder pedigree. Our findings suggest a potential role for these genes and the related rare variants in the onset and development of bipolar disorder in this one family. Additional research is needed to replicate these findings and evaluate their patho-biological significance.


Bipolar disorder; Exome sequencing; GRID1; Linkage analysis

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center