[Association study of genetic markers of schizophrenia and its cognitive endophenotypes].

Genetika Pub Date : 2017-01-01
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
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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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精神分裂症遗传标记与其认知内表型的相关性研究。
对俄罗斯西伯利亚地区人群中11个基因区域(TCF4、VRK2、NOTCH4、ZNF804A、AGBL1、RELN、ZFP64P1、KCNB2、CSMD1、CPVL、NRIP1)和3个基因间区域(SLCO6A1/LINCOO491、LOC105376248/LOC105376249、SPA17/NRGN)中的15个snp与精神分裂症的关联进行了复制分析。这些snp先前在精神分裂症和认知异常的全基因组关联研究(GWAS)中被发现。本研究证实了位于SPA17/NRGN的KCNB2 rs2247572、CSMD1 rs2616984和基因间rs12807809与精神分裂症的相关性。结果表明,CSMD1 rs2616984 G/G基因型在患者中的出现频率高于对照组(OR = 1.73;置信区间:1.14—-2.62;= 0.0337)。KCNB2 rs2247572 TT基因型的频率(OR = 0.41;置信区间:0.20—-0.87;r = 0.0485),基因间rs12807809 CT基因型位于SPA17/NRGN (OR = 0.70;置信区间:0.53—-0.94;与对照组相比,患者的r = 0.0464)显著降低。
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