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Association study of genetic markers of schizophrenia and its cognitive endophenotypes

  • Human Genetics
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Abstract

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.

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Authors and Affiliations

  1. Research Institute of Medical Genetics, Russian Academy of Sciences, Tomsk, 634050, Russia

    A. V. Bocharova, V. A. Stepanov, A. V. Marusin, V. N. Kharkov & K. V. Vagaitseva

  2. National Research Tomsk State University, Tomsk, 634050, Russia

    V. A. Stepanov, V. N. Kharkov, K. V. Vagaitseva & N. A. Bokhan

  3. Mental Health Research Institute, Russian Academy of Sciences, Tomsk, 634014, Russia

    O. Yu. Fedorenko, N. A. Bokhan, A. V. Semke & S. A. Ivanova

Authors
  1. A. V. Bocharova
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  2. V. A. Stepanov
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  3. A. V. Marusin
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  4. V. N. Kharkov
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  5. K. V. Vagaitseva
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  6. O. Yu. Fedorenko
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  7. N. A. Bokhan
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  8. A. V. Semke
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  9. S. A. Ivanova
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Correspondence to A. V. Bocharova.

Additional information

Original Russian Text © 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, 2017, published in Genetika, 2017, Vol. 53, No. 1, pp. 100–108.

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Bocharova, A.V., Stepanov, V.A., Marusin, A.V. et al. Association study of genetic markers of schizophrenia and its cognitive endophenotypes. Russ J Genet 53, 139–146 (2017). https://doi.org/10.1134/S1022795417010033

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