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首页> 外文期刊>Nordic journal of psychiatry. >Relationship between phosphoinositide-3-kinase genetic polymorphism and schizophrenia
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Relationship between phosphoinositide-3-kinase genetic polymorphism and schizophrenia

机译：磷酸肌醇-3-激酶基因多态性与精神分裂症的关系

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摘要

Schizophrenia, with incidence of 1% worldwide, is a common mental disorder. Phosphoinositide-3-kinases (PI3Ks) are a family of enzymes involved in cellular functions such as cell growth, proliferation, differentiation, motility, intracellular trafficking, and survival. These enzymes play an important role in the PI3K/AKT signalling pathway. The PIK3CA gene encodes the alpha catalytic subunit of the PI3K enzyme. The present study analysed the role of three SNPs of the PIK3CA gene (rs6443624 (A/C), rs7640662(C/G) and rs7621329(C/T)) in the development of schizophrenia. Methods: In this case-controlled study, DNA was extracted from blood samples from 108 patients with schizophrenia and 108 healthy patients as controls. Genotypic analyses of PIK3CA SNPs rs6443624 (A/C), rs7640662(C/G) and rs7621329(C/T) were made using the tetra primer ARMS-PCR technique. Results: The outcome shows significant difference between CT and the combined genotype (CT + TT) of rs7621329 and the risk of schizophrenia (OR = 6.4, 95% CI = 3.023-14.23, p < 0.0001). Outcome showed no significant difference for were for analyses of the rs6443624 and rs7640662 genotypes. Conclusions: These results indicate an association between PIK3CA gene polymorphism on the rs7621329(C/T) site and the risk of schizophrenia. Further study of the genetic population using a larger sample size is necessary in order to validate these present findings.
机译：精神分裂症是一种常见的精神障碍，全世界范围内的发生率是1％。磷酸肌醇-3-激酶（PI3K）是涉及细胞功能（例如细胞生长，增殖，分化，运动，细胞内运输和存活）的一族酶。这些酶在PI3K / AKT信号传导途径中起重要作用。 PIK3CA基因编码PI3K酶的α催化亚基。本研究分析了PIK3CA基因的三个SNP（rs6443624（A / C），rs7640662（C / G）和rs7621329（C / T））在精神分裂症的发生中的作用。方法：在该病例对照研究中，从108例精神分裂症患者和108例健康患者的血样中提取DNA。使用四引物ARMS-PCR技术对PIK3CA SNP rs6443624（A / C），rs7640662（C / G）和rs7621329（C / T）进行了基因型分析。结果：结局显示CT与rs7621329的联合基因型（CT + TT）和精神分裂症的风险之间存在显着差异（OR = 6.4，95％CI = 3.023-14.23，p <0.0001）。结果显示，对于rs6443624和rs7640662基因型的分析没有显着差异。结论：这些结果表明rs7621329（C / T）位点上PIK3CA基因多态性与精神分裂症的风险有关。为了验证这些现有发现，有必要使用更大的样本量进一步研究遗传种群。

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