Association study of genetic markers of schizophrenia and its cognitive endophenotypes

• Published in: Russian journal of genetics Vol. 53; no. 1; pp. 139 - 146
• Main Authors: Bocharova, A. V., Stepanov, V. A., Marusin, A. V., Kharkov, V. N., Vagaitseva, K. V., Fedorenko, O. Yu, Bokhan, N. A., Semke, A. V., Ivanova, S. A.
• Format: Journal Article
• Language: English
• Published: Moscow Pleiades Publishing 2017
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Human Genetics; Microbial Genetics and Genomics; cognitive endophenotypes; schizophrenia; Russian population; multifactorial diseases; association study
• ISSN: 1022-7954; 1608-3369
• DOI: 10.1134/S1022795417010033

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.