Ayoub E M, Barrett D J, Maclaren N K, Krischer J P
J Clin Invest. 1986 Jun;77(6):2019-26. doi: 10.1172/JCI112531.
The association of class I and II HLA antigens with rheumatic fever and its manifestations was examined in 72 patients, including 48 blacks and 24 Caucasians. No significant association was found between class I antigens and rheumatic fever. In contrast, HLA-DR2 and HLA-DR4 phenotypes were encountered in a significantly higher frequency in black and Caucasian patients with rheumatic fever, respectively, compared with the control populations (P less than 0.005). The most significant association (P less than 0.005) of these DR antigens with a major manifestation of rheumatic fever was found for mitral insufficiency. In addition, a significant association was encountered between persistent elevation of antibody to the group A streptococcal carbohydrate and HLA-DR4 in Caucasian patients (P less than 0.04) or HLA-DR2 in the black patients (P less than 0.001). The frequency of HLA-DR2/4 heterozygotes among patients with rheumatic fever did not differ significantly from controls. These findings support the concept of a genetically determined susceptibility to rheumatic fever and, particularly, to rheumatic heart disease. The association of the clinical manifestations of rheumatic fever and the immune hyperresponsiveness to a streptococcal antigen could be ascribed to a disease-associated immune-response gene which is in linkage disequilibrium with the DR2 and DR4 alleles of HLA-DR locus on chromosome six.
对72例患者(包括48名黑人患者和24名高加索人患者)进行了I类和II类HLA抗原与风湿热及其临床表现之间关联的研究。未发现I类抗原与风湿热之间存在显著关联。相比之下,与对照组人群相比,风湿热黑人患者和高加索患者中HLA - DR2和HLA - DR4表型的出现频率分别显著更高(P小于0.005)。这些DR抗原与风湿热主要表现之间最显著的关联(P小于0.005)是二尖瓣关闭不全。此外,在高加索患者中,抗A组链球菌碳水化合物抗体持续升高与HLA - DR4之间存在显著关联(P小于0.04),在黑人患者中与HLA - DR2存在显著关联(P小于0.001)。风湿热患者中HLA - DR2/4杂合子的频率与对照组无显著差异。这些发现支持了风湿热,尤其是风湿性心脏病存在遗传决定易感性的概念。风湿热的临床表现与对链球菌抗原的免疫高反应性之间的关联可能归因于一种与疾病相关的免疫反应基因,该基因与6号染色体上HLA - DR位点的DR2和DR4等位基因处于连锁不平衡状态。