Genetic Susceptibility to Rheumatic Heart Disease

风湿性心脏病(RHD)是由于对称为化脓性链球菌或A组链球菌的常见细菌的过度反应造成的。在免疫系统的调节下，对细菌的过度反应会导致心脏瓣膜损伤，称为RHD。其后果包括心力衰竭、中风和感染性心内膜炎(心脏瓣膜感染)，全世界每年至少有50万人死于此病，与乳腺癌的死亡人数相当。在贫困和过度拥挤的生活条件下，特别是在发展中国家，风湿性心脏病和细菌性皮肤和喉咙感染都很常见。只有一小部分被致病菌感染的人会继续发展为风湿性心脏病。尽管贫穷等环境因素起到了一定作用，但我认为，我们身体遗传的蓝图--基因组的差异，可能会像在其他疾病中所显示的那样发挥作用。为了读取基因组，我们将要求患者和志愿者提供血液样本，并使用同时读取大约20万点变异的技术。了解这些差异可能会进一步了解感染和免疫之间的相互作用，并可能产生疫苗开发的方法。

Rheumatic heart disease (RHD) results from an excessive response to common bacteria called either Streptococcus pyogenes or Group A Streptococcus. An excessive response to the bacteria, mediated by the immune system, our toolkit for fighting infection, leads to damage to heart valves, termed RHD. The consequences include heart failure, stroke and infective endocarditis (heart valve infection) and together kill at least 500 000 people worldwide each year, as many as breast cancer.In areas of poverty and over-crowded living conditions, particularly in the developing world, both RHD and bacterial skin and throat infections are common. Only a fraction of individuals infected by the causative bacteria go on to develop RHD. Although environmental factors such as poverty play a part, I believe that differences in our genome, the inherited blueprint for our bodies, might play a role as has been shown to be the case in other diseases. To read the genome we will ask patients and volunteers for a blood sample and use technology that simultaneously reads variation at approximately 200 000 points. Knowledge of these differences might further understanding of the interaction between infection and immunity, and potentially generate approaches to vaccine development.