精神分裂症及其认知内表型的遗传标记关联研究
[Association study of genetic markers of schizophrenia and its cognitive endophenotypes].
作者信息
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
出版信息
Genetika. 2017 Jan;53(1):100-8.
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.
在西伯利亚地区的俄罗斯人群中，对位于11个基因（TCF4、VRK2、NOTCH4、ZNF804A、AGBL1、RELN、ZFP64P1、KCNB2、CSMD1、CPVL、NRIP1）区域的15个单核苷酸多态性（SNP）以及三个基因间区域（SLCO6A1/LINCOO491、LOC105376248/LOC105376249、SPA17/NRGN）与精神分裂症的相关性进行了重复分析。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）中被鉴定出来。本研究证实了位于SPA17/NRGN区域的KCNB2 rs2247572、CSMD1 rs2616984以及基因间rs12807809与精神分裂症的相关性。结果表明，与对照组相比，患者中CSMD1 rs2616984 G/G基因型的频率更高（比值比[OR]=1.73；置信区间[CI]：1.14 - 2.62；p = 0.0337）。与对照组相比，患者中KCNB2 rs2247572 TT基因型（OR = 0.41；CI：0.20 - 0.87；p = 0.0485）以及位于SPA17/NRGN区域的基因间rs128078 CT基因型（OR = 0.70；CI：0.53 - 0.94；p = 0.0464）的频率显著降低。
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