PDF(Pubmed)
Abstract：
Rheumatic heart disease (RHD) caused by group A streptococcus infection is one of the most important reasons of cardiovascular morbidity and mortality in low- and middle-income countries. Aberrant host immune response modulated by polymorphisms in inflammatory response genes plays an important role in RHD pathogenesis. This study aimed to determine risk-associated polymorphic variants in inflammatory response genes in Caucasian RHD patients. A total of 251 Caucasian RHD patients and 300 healthy donors were recruited for this study, and 27 polymorphic sites in 12 genes (TLR1, TLR2, TLR4, TLR6, IL1B, IL6R, IL6, IL10, IL12RB1, IL12B, TNF and CRP) were analyzed using allele-specific PCR. It was demonstrated that the polymorphic variants rs1800871 and rs1800872 in the IL10 gene, rs 1130864, rs3093077 and rs1205 in the CRP gene, rs375947 in the IL12RB1 gene, rs 5743551 and rs5743611 in the TLR1 gene, and rs3775073 in the TLR6 gene can modify RHD risk in a gender- and age-dependent manner. The obtained results can be used to determine the personalized risk of RHD in healthy donors during medical examination or screening, as well as to develop appropriate early prevention strategies targeting RHD in the risk groups.
摘要：
A组链球菌感染引起的风湿性心脏病（RHD）是中低收入国家心血管疾病发病率和死亡率的重要原因之一。炎症反应基因多态性调控的异常宿主免疫反应在RHD发病机制中起重要作用。本研究旨在确定高加索RHD患者炎症反应基因的风险相关多态性变异。本研究共招募251名高加索RHD患者和300名健康捐献者，和12个基因中的27个多态性位点（TLR1，TLR2，TLR4，TLR6，IL1B，IL6R,IL6,IL10,IL12RB1,IL12B,使用等位基因特异性PCR分析TNF和CRP）。结果表明，IL10基因中的多态变异体rs1800871和rs1800872，CRP基因中的rs1130864、rs3093077和rs1205，IL12RB1基因中的rs375947,TLR1基因中的rs5743551和rs5743611，TLR6基因中的rs3775073可以以性别和年龄依赖性方式改变RHD风险。获得的结果可用于确定健康供体在医学检查或筛查期间的个性化RHD风险，以及针对风险组的RHD制定适当的早期预防策略。
