[Polymorphism of CD209 and TLR3 genes in populations of North Eurasia].

Genetika Pub Date : 2016-06-01
A V Barkhash, V N Babenko, M I Voevoda, A G Romaschenko
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Abstract

The DC-SIGN (dendritic cell-specific intercellular adhesion molecule (ICAM)-3-grabbing non-integrin) and TLR3 (toll-like receptor 3) proteins are key effectors of the innate immunity and particularly play an important role in the organism’s antiviral defense as pattern-recognition receptors. Previously, we demonstrated that certain genotypes and alleles of single nucleotide polymorphisms (SNPs) rs2287886 (G/A) in the promoter region of the CD209 gene (encoding DC-SIGN) and rs3775291 (G/A, Leu412Phe) in the exon 4 of the TLR3 gene are associated with human predisposition to tick-borne encephalitis in the Russian population. In the present work, the distribution of genotype and allele frequencies for these SNPs was studied in seven populations of North Eurasia, including Caucasians (Russians and Germans (from Altai region)), Central Asian Mongoloids (Altaians, Khakass, Tuvinians, and Shorians), and Arctic Mongoloids (Chukchi). It was found that the CD209 gene rs2287886 SNP A/A genotype and A allele, as well as the TLR3 gene rs3775291 SNP G/G genotype and G allele (the frequencies of which in our previous studies were increased in tick-borne encephalitis patients as compared with the population control (Russian citizens of Novosibirsk)), are preserved with a high frequency in Central Asian Mongoloids (who for a long time regularly came in contact with tick-borne encephalitis virus in places of their habitation). We suggested that predisposition to tick-borne encephalitis in Central Asian Mongoloid populations can be predetermined by a different set of genes and their polymorphisms than in the Russian population.

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[CD209和TLR3基因在欧亚大陆北部人群中的多态性]。
DC-SIGN(树突状细胞特异性细胞间粘附分子(ICAM)-3-抓非整合素)和TLR3 (toll样受体3)蛋白是先天免疫的关键效应器,特别是作为模式识别受体在生物体的抗病毒防御中发挥重要作用。在此之前,我们证明了CD209基因(编码DC-SIGN)启动子区域的单核苷酸多态性(snp) rs2287886 (G/A)和TLR3基因4外显子rs3775291 (G/A, Leu412Phe)的某些基因型和等位基因与俄罗斯人群中蜱传脑炎的易感性相关。在本研究中,研究了这些snp的基因型和等位基因频率分布在欧亚大陆北部的7个人群中,包括高加索人(来自阿尔泰地区的俄罗斯人和德国人)、中亚蒙古人(阿尔泰人、哈卡斯人、图维尼亚人和肖尔人)和北极蒙古人(楚科奇人)。结果发现,CD209基因rs2287886 SNP A/A基因型和A等位基因,以及TLR3基因rs3775291 SNP G/G基因型和G等位基因(我们以往研究中蜱传脑炎患者与对照人群(新西伯利亚俄罗斯公民)相比频率增加)在中亚蒙古人(长期在居住地定期接触蜱传脑炎病毒)中保存频率较高。我们认为,与俄罗斯人群相比,中亚蒙古人种对蜱传脑炎的易感性可能是由一组不同的基因及其多态性决定的。
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