Tomita H, Ina Y, Sugiura Y, Sato S, Kawaguchi H, Morishita M, Yamamoto M, Ueda R
Second Department of Internal Medicine, Nagoya City University Medical School, Japan.
Am J Respir Crit Care Med. 1997 Jul;156(1):255-9. doi: 10.1164/ajrccm.156.1.9612011.
It has recently been shown that an insertion (I)/deletion (D) polymorphism exists in the angiotensin-converting enzyme (ACE) gene, and that this polymorphism affects the serum ACE level. There are three genotypes: DD, DI, and II, with the ACE level highest in DD, intermediate in DI, and lowest in II. In the present investigation of the possible significance of the polymorphism for sarcoidosis, a total of 207 patients and 314 normal control subjects were examined. There were no significant differences in the I/D ratio and the genotype distribution between the two groups, and no significant variation in organ involvement (i.e., eye, skin, and heart) was noted among the three genotypes. To determine any prognostic influence of the polymorphism, we examined the disappearance ratio of abnormal shadow on chest radiography over 3 and 5 yr. No significant difference among the three genotypes was observed. New normal ranges of serum ACE level were determined for each genotype, and found to be 22% more sensitive overall than the conventional normal range and 39% more so for II type, suggesting an advantage for diagnosis and assessment of the disease activity of sarcoidosis.
最近研究表明，血管紧张素转换酶（ACE）基因存在插入（I）/缺失（D）多态性，且这种多态性会影响血清ACE水平。存在三种基因型：DD、DI和II，其中DD型的ACE水平最高，DI型居中，II型最低。在本次关于该多态性对结节病可能意义的研究中，共检查了207例患者和314名正常对照者。两组之间的I/D比率和基因型分布无显著差异，三种基因型在器官受累情况（即眼睛、皮肤和心脏）方面也未观察到显著差异。为确定该多态性的任何预后影响，我们检查了3年和5年期间胸部X线片上异常阴影的消失率。三种基因型之间未观察到显著差异。确定了每种基因型血清ACE水平的新正常范围，发现总体上比传统正常范围敏感22%，II型更是敏感39%，这表明在结节病疾病活动的诊断和评估方面具有优势。
