Golovkin Alexey S, Ponasenko Anastasia V, Yuzhalin Arseniy E, Salakhov Ramil R, Khutornaya Maria V, Kutikhin Anton G, Rutkovskaya Natalia V, Savostyanova Yulia Yu, Barbarash Leonid S
Research Institute for Complex Issues of Cardiovascular Diseases under the Siberian Branch of the Russian Academy of Medical Sciences, Kemerovo, Russian Federation.
Research Institute for Complex Issues of Cardiovascular Diseases under the Siberian Branch of the Russian Academy of Medical Sciences, Kemerovo, Russian Federation.
Cytokine. 2015 Jan;71(1):16-21. doi: 10.1016/j.cyto.2014.08.001. Epub 2014 Sep 16.
Infective endocarditis (IE) is an inflammatory condition of the lining of the heart chambers and valves, which is generally caused by bacteria. Toll-like receptors (TLRs) and Triggering receptor expressed on myeloid cells (TREMs) are key effectors of the innate system that play a significant role in the recognition of infectious agents, particularly, bacteria. We hypothesised that inherited variation in TLR and TREM-1 genes may affect individual susceptibility to IE. The distribution of genotypes and alleles of the TLR1 (rs5743551, rs5743611), TLR2 (rs3804099, rs5743708), TLR4 (rs4986790, rs4986791), TLR6 (rs3775073, rs5743810), and TREM-1 (rs1817537, rs3804277, rs6910730, rs7768162, rs2234246, rs4711668, rs9471535, rs2234237) gene polymorphisms was investigated in 110 Caucasian (Russian) subjects with IE and 300 age-, sex-, and ethnicity-matched healthy blood donors. Odds ratios with 95% confidence intervals were calculated. We found that C/C genotype of the rs3775073 polymorphism within TLR6 gene was associated with a decreased risk of IE (OR=0.51, 95% CI=0.26-0.97, P=0.032) according to the recessive model; however, we observed no association between the other investigated SNPs within TLR and TREM-1 genes and IE. Further in-depth investigations in this field are necessary to shed the light on the impact of inherited variation within innate immune response genes on the development of IE.
感染性心内膜炎（IE）是一种发生于心房和瓣膜内膜的炎症性疾病，通常由细菌引起。Toll样受体（TLR）和髓样细胞表达的触发受体（TREM）是先天性免疫系统的关键效应分子，在识别感染因子，特别是细菌方面发挥着重要作用。我们推测TLR和TREM-1基因的遗传变异可能影响个体对IE的易感性。在110名患有IE的白种人（俄罗斯人）受试者和300名年龄、性别和种族匹配的健康献血者中，研究了TLR1（rs5743551、rs5743611）、TLR2（rs3804099、rs5743708）、TLR4（rs4986790、rs4986791）、TLR6（rs3775073、rs5743810）以及TREM-1（rs1817537、rs3804277、rs6910730、rs7768162、rs2234246、rs4711668、rs9471535、rs2234237）基因多态性的基因型和等位基因分布。计算了95%置信区间的比值比。我们发现，根据隐性模型，TLR6基因内rs3775073多态性的C/C基因型与IE风险降低相关（OR=0.51，95%CI=0.26-0.97，P=0.032）；然而，我们未观察到TLR和TREM-1基因内其他研究的单核苷酸多态性（SNP）与IE之间存在关联。有必要在该领域进行进一步深入研究，以阐明先天性免疫反应基因内的遗传变异对IE发生发展的影响。
