Association study of genetic markers of schizophrenia and its cognitive endophenotypes

A. V. Bocharova, V. A. Stepanov, A. V. Marusin, V. N. Kharkov, K. V. Vagaitseva, O. Yu Fedorenko, N. A. Bokhan, A. V. Semke, S. A. Ivanova

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)139-146
Number of pages8
JournalRussian Journal of Genetics
Issue number1
Publication statusPublished - 1 Jan 2017
Externally publishedYes


  • association study
  • cognitive endophenotypes
  • multifactorial diseases
  • Russian population
  • schizophrenia

ASJC Scopus subject areas

  • Genetics

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