Russian Journal of Genetics

, Volume 53, Issue 1, pp 139–146 | Cite as

Association study of genetic markers of schizophrenia and its cognitive endophenotypes

  • A. V. BocharovaEmail author
  • V. A. Stepanov
  • A. V. Marusin
  • V. N. Kharkov
  • K. V. Vagaitseva
  • O. Yu. Fedorenko
  • N. A. Bokhan
  • A. V. Semke
  • S. A. Ivanova
Human Genetics


A replicative analysis of associations of 15 SNPs located in the regions of 11 genes (TCF4, VRK2, NOTCH4, ZNF804A, AGBL1, RELN, ZFP64P1, KCNB2, CSMD1, CPVL, NRIP1) and three intergenic regions (SLCO6A1/LINCOO491, LOC105376248/LOC105376249, SPA17/NRGN) with schizophrenia was conducted in the Russian population of the Siberian region. These SNPs were previously identified in genome-wide association studies (GWAS) of schizophrenia and cognitive abnormalities. The present study confirmed associations of KCNB2 rs2247572, CSMD1 rs2616984, and intergenic rs12807809 located in SPA17/NRGN with schizophrenia. It was established that the frequency of the CSMD1 rs2616984 G/G genotype was higher in patients compared to the control group (OR = 1.73; CI: 1.14–2.62; р = 0.0337). The frequencies of the KCNB2 rs2247572 TT genotype (OR = 0.41; CI: 0.20–0.87; р = 0.0485) and intergenic rs12807809 CT genotype located in SPA17/NRGN (OR = 0.70; CI: 0.53–0.94; р = 0.0464) were significantly decreased in patients compared to the control group.


schizophrenia cognitive endophenotypes association study multifactorial diseases Russian population 


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Copyright information

© Pleiades Publishing, Inc. 2017

Authors and Affiliations

  • A. V. Bocharova
    • 1
    Email author
  • V. A. Stepanov
    • 1
    • 2
  • A. V. Marusin
    • 1
  • V. N. Kharkov
    • 1
    • 2
  • K. V. Vagaitseva
    • 1
    • 2
  • O. Yu. Fedorenko
    • 3
  • N. A. Bokhan
    • 2
    • 3
  • A. V. Semke
    • 3
  • S. A. Ivanova
    • 3
  1. 1.Research Institute of Medical GeneticsRussian Academy of SciencesTomskRussia
  2. 2.National Research Tomsk State UniversityTomskRussia
  3. 3.Mental Health Research InstituteRussian Academy of SciencesTomskRussia

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