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编码区 TLR3 基因单核苷酸多态性 rs3775291 与俄罗斯人群中蜱传脑炎易感性的关联。

Association of single nucleotide polymorphism rs3775291 in the coding region of the TLR3 gene with predisposition to tick-borne encephalitis in a Russian population.

机构信息

Institute of Cytology and Genetics, Russian Academy of Sciences, Siberian Branch, 10 Lavrentyeva Ave., Novosibirsk 630090, Russia.

出版信息

Antiviral Res. 2013 Aug;99(2):136-8. doi: 10.1016/j.antiviral.2013.05.008. Epub 2013 May 27.

Abstract

Tick-borne encephalitis (TBE) is a central nervous system (CNS) disease caused by the neurotropic, positive-sense RNA virus, tick-borne encephalitis virus (TBEV). A possible association between predisposition to TBE in a Russian population and two polymorphisms, a 32bp deletion in the coding region of the chemokine receptor CCR5 gene and the rs3775291 single nucleotide polymorphism (SNP) (G/A, Leu412Phe) in exon 4 of the toll-like receptor TLR3 gene, was investigated. The genotypic and allelic frequencies of these polymorphisms were analyzed in 137 non-immunized TBE patients with different clinical manifestations, including fever (35), meningitis (62), and severe CNS disease (40), as well as in a control population (269 randomly selected Novosibirsk citizens). The frequencies of the TLR3 G allele and G/G homozygotes were significantly higher among the patients with TBE compared with the control group (P=0.029 and 0.037, respectively), especially among patients with severe disease (P=0.018 and 0.017, respectively). These results indicate that the G allele (within the G/G homozygous genotype) of the TLR3 rs3775291 SNP is associated with predisposition to TBE in the Russian population.

摘要

蜱传脑炎(TBE)是一种中枢神经系统(CNS)疾病,由亲神经性、正链 RNA 病毒蜱传脑炎病毒(TBEV)引起。在俄罗斯人群中,TBE 的易感性可能与两个多态性有关,一个是趋化因子受体 CCR5 基因编码区的 32bp 缺失,另一个是 toll 样受体 TLR3 基因外显子 4 中的 rs3775291 单核苷酸多态性(SNP)(G/A,Leu412Phe)。分析了这些多态性在 137 例具有不同临床表现的未免疫 TBE 患者(包括发热(35 例)、脑膜炎(62 例)和严重 CNS 疾病(40 例))和对照组(269 名随机选择的新西伯利亚市民)中的基因型和等位基因频率。与对照组相比,TBE 患者的 TLR3 G 等位基因和 G/G 纯合子频率显著升高(P=0.029 和 0.037),尤其是严重疾病患者(P=0.018 和 0.017)。这些结果表明,TLR3 rs3775291 SNP 的 G 等位基因(在 G/G 纯合基因型中)与俄罗斯人群中 TBE 的易感性相关。

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