Related Experiment Video
Updated: Mar 31, 2026
04:42
Developing a Rat Model for Bipolar Disorder
Published on: May 2, 2025
1.7K
Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder
J Song1, S E Bergen1,2, A Di Florio3
1Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Molecular Psychiatry
|October 28, 2015
Summary
Researchers identified a genetic variant in the SESTD1 gene associated with lithium-responsive bipolar disorder (BD). This finding offers insights into BD subtypes and potential therapeutic targets for lithium treatment.
Area of Science:
- Genetics
- Psychiatry
- Pharmacogenomics
Background:
- Lithium is a primary treatment for bipolar disorder (BD), but individual responses vary significantly.
- Lithium responders may represent a distinct subtype of BD, offering a target for genetic research.
- Understanding the genetic underpinnings of lithium response is crucial for personalized medicine in BD.
Purpose of the Study:
- To identify genetic variations influencing lithium response in bipolar disorder.
- To discover genetic variants associated with the risk of lithium-responsive BD.
- To explore the genetic architecture of BD subtypes based on lithium treatment efficacy.
Main Methods:
- Genome-wide association studies (GWAS) were conducted on patients with bipolar disorder from Sweden and the UK.
- GWAS compared lithium responders (subjective and objective definitions) with healthy controls.
- Meta-analysis and confirmatory genotyping were used to validate significant genetic associations.
Main Results:
- No significant associations were found for lithium response within bipolar disorder subjects.
- Two markers showed genome-wide significant associations when comparing lithium-responsive patients with controls.
- A validated intronic single-nucleotide polymorphism (SNP), rs116323614, in the SESTD1 gene on chromosome 2q31.2 was identified.
- The SESTD1 gene encodes a protein involved in phospholipid regulation, a known target of lithium treatment.
- Common variants explained a substantial proportion of variance in lithium-responsive BD (SNP heritability of 0.25-0.29).
Conclusions:
- A specific genetic variant in SESTD1 is associated with the risk of lithium-responsive bipolar disorder.
- This discovery supports the focus on lithium-responsive BD as a distinct subtype for understanding BD etiology.
- Findings suggest SESTD1 and phospholipid pathways as potential targets for future research and therapeutic strategies in BD.
More Related Videos
09:52Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
Published on: April 19, 2013
25.0K
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
11.5K
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
16.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
16.6K
01:28Human Genetics
1.9K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.9K
01:30Bipolar Disorder
1.4K
Bipolar disorder is a chronic mental health condition marked by significant mood fluctuations, including episodes of mania and depression. Elevated energy levels, heightened mood or irritability, impulsive behavior, reduced sleep needs, rapid speech, racing thoughts, inflated self-esteem, and distractibility characterize mania. Individuals with bipolar disorder often alternate between depressive and manic states, with periods of emotional stability lasting an average of six months to a year.
1.4K
01:29Pharmacogenomics: Identification of New Drug Targets
77
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
77
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
109
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
109
01:33Pleiotropy
44.0K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
44.0K