A genetic variant in CAMKK2 gene is possibly associated with increased risk of bipolar disorder

J Neural Transm (Vienna). 2016 Mar;123(3):323-8. doi: 10.1007/s00702-015-1456-7. Epub 2015 Sep 9.


A recent large-scale study have reported that rs1063843, a single nucleotide polymorphism located in the CAMKK2 gene is highly associated with schizophrenia in European and Han Chinese populations. Increasing evidences show that schizophrenia and bipolar disorder have some common genetic variance. Here, we evaluated the association of this variant with schizophrenia and bipolar disorder in Iranian population. Genomic DNA was extracted from peripheral blood of 500 schizophrenic patients, 500 bipolar patients and 500 normal controls and all were genotyped for the rs1063843 using a PCR-RFLP method. The allele frequency of rs1063843 was significantly different in both schizophrenia and bipolar patients comparing to control group. For the first time, we showed that rs1063843 is highly associated with bipolar disorder, although more replication studies are needed to confirm our findings. Our results also support the findings of previous studies suggesting a significant association between rs1063843 and schizophrenia.

Keywords: Bipolar; CAMKK2; Iranian; Polymorphism; Schizophrenia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics
  • Bipolar Disorder / genetics*
  • Calcium-Calmodulin-Dependent Protein Kinase Kinase / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Iran
  • Male
  • Middle Aged
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Schizophrenia / genetics


  • CAMKK2 protein, human
  • Calcium-Calmodulin-Dependent Protein Kinase Kinase