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[瑞林基因中rs7341475多态性与DNA甲基化与精神分裂症症状的关系]

[Relationships of rs7341475 polymorphism and DNA methylation in the reelin gene with schizophrenia symptoms].

作者信息

Alfimova M V, Kondratyev N V, Golov A K, Golubev S A, Galaktionova D Yu, Nasedkina T V, Golimbet V E

机构信息

Mental Health Research Center, Moscow, Russia.

Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(9):71-76. doi: 10.17116/jnevro201811809171.

Abstract

AIM

To study the role of polymorphism rs7341475 and methylation of the reelin gene in symptoms of schizophrenia and semantic verbal fluency.

MATERIAL AND METHODS

Genotypes at the locus rs7341475 were identified in 556 patients with schizophrenic disorders. PANSS scores were obtained for 549 patients and 221 patients performed a test for semantic verbal fluency. The association of the reelin promoter methylation with the PANSS and verbal fluency measures was evaluated in 35 patients. A five-factor model of the PANSS was used.

RESULTS

The interaction effect of sex with genotype on the PANSS scores was found (F=2.70, p=0.020). Schizophrenic men homozygous for a common allele G had the lowest scores of the positive syndrome. Verbal fluency was related to the reelin promoter methylation.

CONCLUSION

The results suggest that polymorphism rs7341475 may be associated with the variability of positive symptomatology in schizophrenic men. At the same time, the reelin gene methylation pattern, which consists of a higher methylation level in the region of the transcription start site and a lower one in the distal region of the promoter, may be beneficial for verbal fluency.

摘要

目的

研究瑞连蛋白基因多态性rs7341475及甲基化在精神分裂症症状和语义言语流畅性中的作用。

材料与方法

对556例精神分裂症患者进行rs7341475位点的基因分型。获取了549例患者的阳性和阴性症状评定量表(PANSS)评分,221例患者进行了语义言语流畅性测试。对35例患者评估瑞连蛋白启动子甲基化与PANSS及言语流畅性指标之间的关联。采用PANSS的五因素模型。

结果

发现性别与基因型对PANSS评分存在交互作用(F = 2.70,p = 0.020)。常见等位基因G纯合的精神分裂症男性阳性症状得分最低。言语流畅性与瑞连蛋白启动子甲基化有关。

结论

结果表明,多态性rs7341475可能与精神分裂症男性阳性症状的变异性有关。同时,瑞连蛋白基因甲基化模式,即在转录起始位点区域甲基化水平较高而在启动子远端区域较低,可能有利于言语流畅性。

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