Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2
Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2
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DOI：
10.1371/journal.pone.0056362
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发表时间：
2013-02-18
期刊：
影响因子：
3.7
通讯作者：
Pan, Suyue
中科院分区：
文献类型：
--
作者：
Hu, Yafang;Jiang, Haishan;Pan, Suyue
人血红素加氧酶-1基因启动子区GT重复序列的长度多态性调节其基因转录以保护心肌免受损伤。本研究旨在探讨HO-1基因启动子多态性与房颤导管消融术预后的关系。在205例随机接受导管消融治疗的药物难治性房颤患者中筛选HO-1基因启动子中GT重复的等位基因频率。在接受导管消融的患者中，房颤复发患者的GT重复较少（53.4+/-7.1 vs. 56.1+/-6.5，p = 0.004），高脂血症的发生率较低，非阵发性房颤较多，左心房直径较大。在进行多变量logistic分析后，GT重复次数（比值比：0.94，95% CI 0.90-0.99，p = 0.01）和左心房直径（比值比：1.08，95% CI 1.02-1.15，p = 0.01）仍然是独立的预测因子。GT重复序列的携带者，
A length polymorphism of GT repeats in the promoter region of the human heme oxygenase-1 (HO-1) gene modulates its gene transcription to protect against myocardial injury. The present study investigated the association between HO-1 promoter polymorphisms and the outcomes of catheter ablation of atrial fibrillation (AF). The allelic frequencies of GT repeats in the HO-1 gene promoter were screened in 205 random individuals who underwent catheter ablation for drug refractory AF. In the patients who received catheter ablation, those with AF recurrence had fewer GT repeats (53.4+/-7.1 vs. 56.1+/-6.5, p = 0.004), a lower incidence of hyperlipidemia, more non-paroxysmal AF, and a larger left atrial diameter. After conducting a multivariate logistic analysis, the number of GT repeats (Odds ratio: 0.94, 95% CI 0.90-0.99, p = 0.01) and the diameter of the left atrium (Odds ratio: 1.08, 95% CI 1.02-1.15, p = 0.01) remained independent predictors. The carriers of GT repeats, which were