去甲肾上腺素转运体、Gβ3 基因多态性与双相障碍Ⅱ型的关联分析
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基金项目:国家自然科学基金项目(81371494);河南省基础与前沿技术研究项目(122300410078)


Association of norepinephrine transporter and Gβ3 single nucleotide polymorphisms with bipolar disorder-Ⅱ
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    摘要:

    目的通过去甲肾上腺素转运体(NET) 相关第二信号转导通路部分中介分子的单核苷酸多态性(SNPs) 与双相障碍关系的探讨,寻找双相障碍的生物学标记。方法选择符合DSM-Ⅳ有关双相障碍-Ⅱ诊断标准、随访3 年以上的患者152 例( 病例组),健康对照187 名( 对照组),采用连接酶检测反应(LDR) 技术,测定NET 基因的rs5569、rs2242446 及Gβ3 亚基基因的rs5433 共3 个SNPs 进行检测,比较两组间3 个SNPs 的基因型及等位基因频度差异,采用最优尺度分析判断不同基因型与情感稳定剂疗效的关系。结果病例组与对照组比较,3 个位点的基因型及等位基因频度分布差异均无统计学意义(P >0.05);rs5433 的TT 型患者对情感稳定剂效果优于其他型,差异有统计学意义(P <0.05)。结论没有发现rs5569、rs2242446 及 rs5433 与双相障碍的发病有关,但发现Gβ3 基因多态性与情感稳定剂的预防复发效应有关,提示rs5433 可能是使用情感稳定剂标志SNPs 之一。

    Abstract:

    Objective To investigate the association of single nucleotide polymorphisms (SNPs) ofintermediate molecules in the second signal transduction pathway of norepinephrine transporter (NET) withbipolar disorder,and look for biological markers of bipolar disorder. Methods Totals of 152 patients in accord with the diagnostic standard of bipolar disorder in DSM-Ⅳwho were followed for more than 3 years and 187healthy controls were involved. Ligase detection reaction (LDR) was used to detect the genotypes of rs5569 and rs2242446 in NET,and rs5433 in Gβ3. The frequencies of genotypes and alleles were compared between two groups. Optimal scale analysis was used to determine the association between different genotypes and the effect of emotion stabilizer. Results No significant differences were found in frequencies of genotypes and alleles of three SNPs between two groups (P >0.05). Emotion stabilizer showed better effect on patients carried with TT genotypeof rs5433 (P <0.05). Conclusions There are no association between SNPs rs5569,rs2242446 and rs5433 and bipolar disorder. The polymorphism of Gβ3 gene is related to recurrence prevention effect of emotion stabilizer,suggesting that rs5433 may be a marker SNP of emotion stabilizer.

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庞剑月 曹素霞 赵晓锋 李湘露 郝以辉 李恒芬.去甲肾上腺素转运体、Gβ3 基因多态性与双相障碍Ⅱ型的关联分析[J].神经疾病与精神卫生,2017,17(1):
DOI :10.3969/j. issn.1009-6574.2017.01.006.

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  • 在线发布日期: 2017-07-07