Kishimoto C, Kaburagi T, Takayama S, Yokoyama S, Hanyu I, Takatsu Y, Tomimoto K
Am Heart J. 1983 Jun;105(6):988-94. doi: 10.1016/0002-8703(83)90401-5.
In this study we have performed human leukocyte antigen (HLA)-A and B typing on nine patients with hypertrophic cardiomyopathy (HCM) and their relatives. Four patients had relatives who also had the disease. HLA typing of the familial form of HCM revealed a very close association of a given HLA-A,B haplotype with the occurrence of the disease. All four patients who had affected relatives had obstruction of left ventricular outflow (LVOT), while four patients with unaffected relatives did not have obstruction. One additional patient with obstruction and without familial incidence was an only child and had few living relatives. Thus, HCM can be divided into two subtypes: a familial form linked to the HLA-A,B system, which may be related to obstructive type, and a sporadic form not linked to HLA antigens. These data confirm the existence of at least two separate forms of hypertrophic cardiomyopathy. The study also confirms their existence in the Japanese population, with a completely different gene pool than the population from the southeastern United States in whom the observation was initially described.
在本研究中，我们对9例肥厚型心肌病（HCM）患者及其亲属进行了人类白细胞抗原（HLA）-A和B分型。4例患者的亲属也患有该病。对家族性HCM的HLA分型显示，特定的HLA-A、B单倍型与该病的发生密切相关。所有4例有患病亲属的患者均有左心室流出道（LVOT）梗阻，而4例亲属未患病的患者则没有梗阻。另外1例有梗阻但无家族发病史的患者是独生子女，在世亲属很少。因此，HCM可分为两种亚型：一种与HLA-A、B系统相关的家族性形式，可能与梗阻型有关；另一种与HLA抗原无关的散发性形式。这些数据证实了至少两种不同形式的肥厚型心肌病的存在。该研究还证实在日本人群中也存在这两种形式，日本人群的基因库与最初描述该观察结果的美国东南部人群完全不同。
