Related Experiment Video

Updated: May 8, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Published on: April 19, 2013

Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene

X-J Luo1, M Li2, L Huang3

  • 11] College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou, China [2] Department of Ophthalmology and Flaum Eye Institute, University of Rochester, Rochester, NY, USA.

Molecular Psychiatry
|August 21, 2013
PubMed

Insights

Calcium/calmodulin (CAM)-dependent protein kinase kinase 2 (CAMKK2) is downregulated in schizophrenia patients. A specific genetic variant, rs1063843, is linked to CAMKK2 expression and schizophrenia risk, impacting cognitive function.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Schizophrenia pathogenesis involves differential gene expression.
  • Identifying key genes and their regulatory variants is crucial for understanding schizophrenia.

Purpose of the Study:

  • To investigate the role of calcium/calmodulin (CAM)-dependent protein kinase kinase 2 (CAMKK2) in schizophrenia.
  • To identify genetic variants associated with CAMKK2 expression and schizophrenia risk.

Main Methods:

  • Analyzed two large-scale genome-wide expression studies.
  • Investigated single-nucleotide polymorphism (SNP) association with CAMKK2 expression.
  • Conducted multi-population association study for SNP rs1063843 and schizophrenia.
  • Performed protein-protein interaction (PPI) network analysis.

Main Results:

  • CAMKK2 was significantly downregulated in schizophrenia patients in both expression studies.
  • SNP rs1063843 in intron 17 of CAMKK2 strongly associated with CAMKK2 expression levels.
  • rs1063843 significantly associated with schizophrenia risk across multiple populations.
  • The T allele of rs1063843, linked to lower CAMKK2 expression, was more frequent in schizophrenia patients.
  • rs1063843 also associated with cognitive function and personality traits.
  • CAMKK2 identified within a highly interconnected PPI network of top schizophrenia genes.

Conclusions:

  • CAMKK2 downregulation and its regulatory SNP rs1063843 suggest a role in schizophrenia susceptibility.
  • Converging evidence supports CAMKK2's pivotal role in the pathogenesis of schizophrenia.

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Related Concept Videos

Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within the...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Interactions Between Signaling Pathways01:19

Interactions Between Signaling Pathways

Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
cAMP-dependent Protein Kinase Pathways01:25

cAMP-dependent Protein Kinase Pathways

Cyclic Adenosine Monophosphate (cAMP) is an essential second messenger that activates protein kinase A (PKA) and regulates various biological processes. A single epinephrine molecule binds to GPCR and activates several heterotrimeric G proteins, each stimulating multiple adenylyl cyclase, amplifying the signal, and synthesizing large numbers of cAMP molecules. Small changes in cAMP concentration affect PKA activity. The binding of four cAMP molecules induces a conformational change in PKA,...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...