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Toll样受体2(TLR2)基因中的单核苷酸多态性与中国东北汉族人群的散发性帕金森病相关。

Single nucleotide polymorphisms in the toll-like receptor 2 (TLR2) gene are associated with sporadic Parkinson's disease in the North-eastern Han Chinese population.

作者信息

Li Xiaoyuan, Xue Li, Sun Jinfang, Sun Yanping, Xie Anmu

机构信息

Department of Neurology, The Affiliated Hospital of Qingdao University, China; Department of Neurology, Hospital of Integrated Traditional and Western Medicine, China.

Department of Rehabilitation, The Affiliated Hospital of Qingdao University, China.

出版信息

Neurosci Lett. 2017 Aug 24;656:72-76. doi: 10.1016/j.neulet.2017.07.014. Epub 2017 Jul 17.

Abstract

Growing evidences suggested that inflammatory process played a critical role in the pathogenesis of Parkinson's disease (PD). Given that TLR2 has been implicated in the perpetuation of inflammatory responses in the central nervous system (CNS), we investigated the association between two genetic variants (rs3804099 and rs3804100) of TLR2 and sporadic PD in Han Chinese population. 395 Han Chinese sporadic PD patients and 413 healthy age and gender-matched controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The sporadic PD patients showed a higher T allele frequency than the healthy-matched control (p=0.019). Furthermore rs3804099 dominate model TT versus (vs.) TC+CC increase the risk of sporadic PD (OR=1.376, 95%CI=1.043-1.814, p=024). From the subgroup analysis, the variant allele T of rs3804099 was higher in sporadic PD cases (73.1%) than in controls (67.4%) in the late-onset cohort. Meanwhile rs3804099 revealed significant association in dominant model: Subjects with TT genotypes vs. those with TC+CC genotype showed evident significant in late-onset cohort (LOPD OR=1.417, 95%CI=1.051-1.911, p=022). In contrast, allele frequencies at rs3804100 were similar between patients and controls. Taken together, this study reveals that polymorphism of TLR2 locus is associated with risk of sporadic PD in the North-eastern part of Han Chinese population. Further studies are required to evaluate the association.

摘要

越来越多的证据表明,炎症过程在帕金森病(PD)的发病机制中起关键作用。鉴于Toll样受体2(TLR2)与中枢神经系统(CNS)炎症反应的持续存在有关,我们研究了TLR2的两个基因变体(rs3804099和rs3804100)与汉族人群散发性PD之间的关联。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对395例汉族散发性PD患者和413例年龄、性别匹配的健康对照进行基因分型。散发性PD患者的T等位基因频率高于健康对照(p=0.019)。此外,rs3804099的显性模型TT与TC+CC相比增加了散发性PD的风险(OR=1.376,95%CI=1.043-1.814,p=0.024)。亚组分析显示,在晚发型队列中,rs3804099的变异等位基因T在散发性PD病例中(73.1%)高于对照组(67.4%)。同时,rs3804099在显性模型中显示出显著关联:TT基因型受试者与TC+CC基因型受试者在晚发型队列中表现出明显的显著性(晚发型帕金森病OR=1.417,95%CI=1.051-1.911,p=0.022)。相比之下,rs3804100的等位基因频率在患者和对照组之间相似。综上所述,本研究表明TLR2基因座的多态性与中国东北汉族人群散发性PD的风险相关。需要进一步研究来评估这种关联。

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