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首页> 外文期刊>Medicine. >STK39, But Not BST1, HLA-DQB1, and SPPL2B Polymorphism, Is Associated With Han-Chinese Parkinson's Disease in Taiwan
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STK39, But Not BST1, HLA-DQB1, and SPPL2B Polymorphism, Is Associated With Han-Chinese Parkinson's Disease in Taiwan

机译:STK39,而不是BST1,HLA-DQB1和SPPL2B多态性,与台湾汉族帕金森氏病相关

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Neuroinflammation is emerging as an important pathway involved in Parkinson's disease (PD) pathogenesis. Herein, we investigated the effect of 4 top PD-associated genetic variants in Caucasians listed on the top risk loci identified by meta-analysis of genome wide-association studies in PDGene database (http://www.pdgene.org/top_results), including serine threonine kinase 39 (STK39) rs1955337, bone marrow stromal cell antigen 1 (BST1) rs11724635, major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1) rs9275326, and signal peptide peptidase-like 2B (SPPL2B) rs62120679, by genotyping 596 Han-Chinese patients with PD and 597 age-matched control subjects. Compared with subjects with STK39 rs1955337 GG genotype, those with TT genotype had a 1.64-fold increased risk of PD (95% confidence interval: 1.13-2.39, P=0.010). The recessive model also demonstrated an increased PD risk in TT genotype (odds ratio: 1.59, 95% confidence interval: 1.12-2.27) compared with the other genotypes (GT+GG). PD patients demonstrate a similar genotypic and allelic frequency in BST1 rs11724635, HLA-DQB1 rs9275326, and SPPL2B rs62120679 compared with controls. These findings suggested that the STK39 rs1955337 TT genotype is a risk factor for Han-Chinese patients with PD in Taiwan. The ethnic discrepancies of the other 3 genetic variants may indicate a distinct genetic background of neuroinflammation between PD patients in Han-Chinese and Caucasians.
机译:神经炎症正在成为参与帕金森氏病(PD)发病机理的重要途径。本文中,我们调查了通过PDGene数据库(http://www.pdgene.org/top_results)进行的基因组广泛关联研究的荟萃分析确定的在高风险人群中列出的高加索人中4种与PD相关的遗传变异的影响,包括丝氨酸苏氨酸激酶39(STK39)rs1955337,骨髓基质细胞抗原1(BST1)rs11724635,主要组织相容性复合物,II类,DQ beta 1(HLA-DQB1)rs9275326和信号肽类肽酶样2B(SPPL2B)rs62120679,通过对596名汉族PD患者和597名年龄匹配的对照受试者进行基因分型。与具有STK39 rs1955337 GG基因型的受试者相比,具有TT基因型的受试者的PD风险增加了1.64倍(95%置信区间:1.13-2.39,P = 0.010)。与其他基因型(GT + GG)相比,隐性模型还显示出TT基因型的PD风险增加(赔率:1.59,95%置信区间:1.12-2.27)。与对照组相比,PD患者在BST1 rs11724635,HLA-DQB1 rs9275326和SPPL2B rs62120679中表现出相似的基因型和等位基因频率。这些发现表明,STK39 rs1955337 TT基因型是台湾台湾汉族PD患者的危险因素。其他3个遗传变异的种族差异可能表明汉族和高加索人PD患者之间神经炎症的遗传背景不同。

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