Association study of genetic markers of schizophrenia and its cognitive endophenotypes

作者：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

来源：Russian Journal of Genetics, 2017, 53(1): 139-146.

DOI：10.1134/S1022795417010033

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

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; NEuro = 0.0337). The frequencies of the KCNB2 rs2247572 TT genotype (OR = 0.41; CI: 0.20-0.87; NEuro = 0.0485) and intergenic rs12807809 CT genotype located in SPA17/NRGN (OR = 0.70; CI: 0.53-0.94; NEuro = 0.0464) were significantly decreased in patients compared to the control group.

• 出版日期2017-1
• 单位河北医科大学