Association of histamine N-methyltransferase Thr105Ile polymorphism with Parkinson's disease and schizophrenia in Han Chinese: a case-control study.

Association of histamine N-methyltransferase Thr105Ile polymorphism with Parkinson's disease and schizophrenia in Han Chinese: a case-control study.
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汉族组胺 N-甲基转移酶 Thr105Ile 多态性与帕金森病和精神分裂症的关联:病例对照研究。

DOI:
10.1371/journal.pone.0119692
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发表时间:
2015
期刊:
影响因子:
3.7
通讯作者:
Xu Y
Xu Y
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Yang X;Liu C;Zhang J;Han H;Wang X;Liu Z;Xu Y

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帕金森病(PD)和精神分裂症(SCZ)是常见的中枢神经系统疾病,病因不明,但在其发病机制中显示出相似性。由于脑中组胺水平升高与PD和SCZ相关,我们想探讨组胺N-甲基转移酶基因(HNMT-Thr 105 Ile)中的Thr 105 Ile取代是否与这两种疾病相关。我们使用连接酶检测反应对中国汉族PD或SCZ患者和健康对照组的HNMT-Thr 105 Ile位点进行基因分型。Ile等位基因与PD(OR 0.516,95%CI 0.318至0.838,p = 0.007)和SCZ(OR 0.499,95%CI 0.288至0.865,p = 0.011)风险降低相关。当我们比较男性与女性或早发性患者与晚发性患者时,患者与对照组之间的基因型频率和次要等位基因频率相似。帕金森病运动障碍患者与无运动障碍患者的基因型和等位基因频率差异无统计学意义。我们的研究结果表明,在HNMT-Thr 105 Ile位点的杂合Thr/Ile基因型和次要Ile 105等位基因保护对PD和SCZ在中国汉族人。
Parkinson’s disease (PD) and schizophrenia (SCZ) are frequent central nervous disorders that have unclear etiologies but that show similarities in their pathogenesis. Since elevated histamine levels in the brain have been associated with PD and SCZ, we wanted to explore whether the Thr105Ile substitution in the histamine N-methyltransferase gene (HNMT-Thr105Ile), which impairs histamine degradation, is associated with either disease. We used the ligase detection reaction to genotype a case-control cohort of Han Chinese patients with PD or SCZ and healthy controls at the HNMT-Thr105Ile locus. The Ile allele was associated with reduced risk of PD (OR 0.516, 95%CI 0.318 to 0.838, p = 0.007) and of SCZ (OR 0.499, 95%CI 0.288 to 0.865, p = 0.011). Genotype frequencies and minor allele frequencies were similar between patients and controls when we compared males with females or early-onset patients with late-onset ones. Genotype and allele frequencies were not significantly different between PD patients with dyskinesia and PD patients without dyskinesia. Our results suggest that the heterozygous Thr/Ile genotype at the HNMT-Thr105Ile locus and the minor Ile105 allele protect against PD and SCZ in Han Chinese.
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