Ponasenko Anastasia V, Kutikhin Anton G, Khutornaya Maria V, Rutkovskaya Natalia V, Kondyukova Natalia V, Odarenko Yuri N, Kazachek Yana V, Tsepokina Anna V, Barbarash Leonid S, Yuzhalin Arseniy E
Research Institute for Complex Issues of Cardiovascular Diseases, Sosnovy Boulevard 6, Kemerovo 650002, Russia.
Department of Oncology, CRUK/MRC Oxford Institute for Radiation Oncology, University of Oxford, Old Road Campus Research Building, Roosevelt Drive, Oxford OX3 7DQ, UK.
Mediators Inflamm. 2017;2017:7962546. doi: 10.1155/2017/7962546. Epub 2017 Jun 4.
Infective endocarditis (IE) is a septic inflammation of the endocardium. Recognition of microbial patterns, cytokine and acute phase responses, hemostasis features, and alterations in plasma lipid and calcium profile all have been reported to affect pathogenesis and clinical course of IE. Having recruited 123 patients with IE and 300 age-, sex-, and ethnicity-matched healthy blood donors, we profiled their genomic DNA for 35 functionally significant polymorphisms within the 22 selected genes involved in the abovementioned pathways, with the further genetic association analysis. We found that the G/A genotype of the rs1143634 polymorphism within the gene, the G/T genotype of the rs3212227 polymorphism within the gene, the A/G genotype of the rs1130864 polymorphism within the gene, and the G allele of the rs1801197 polymorphism within the gene were associated with a decreased risk of IE whereas the T/T genotype of the rs1205 polymorphism within the gene was associated with a higher risk of IE. Furthermore, heterozygous genotypes of the rs1143634 and rs3212227 polymorphisms were associated with the higher plasma levels of IL-1 and IL-12, respectively. Our results indicate that inherited variation in the cytokine, acute phase response, and calcium metabolism pathways may be linked to IE.
感染性心内膜炎（IE）是心内膜的一种感染性炎症。据报道，对微生物模式、细胞因子和急性期反应、止血特征以及血浆脂质和钙谱改变的认识均会影响IE的发病机制和临床病程。我们招募了123例IE患者和300名年龄、性别和种族匹配的健康献血者，对他们的基因组DNA进行分析，检测22个参与上述途径的选定基因内35个具有功能意义的多态性，并进行进一步的遗传关联分析。我们发现，基因内rs1143634多态性的G/A基因型、基因内rs3212227多态性的G/T基因型、基因内rs1130864多态性的A/G基因型以及基因内rs1801197多态性的G等位基因与IE风险降低相关，而基因内rs1205多态性的T/T基因型与IE风险升高相关。此外，rs1143634和rs3212227多态性的杂合基因型分别与较高的血浆IL-1和IL-12水平相关。我们的结果表明，细胞因子、急性期反应和钙代谢途径中的遗传变异可能与IE有关。
