CFTR gene mutations in sarcoidosis
CFTR gene mutations in sarcoidosis
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DOI：
10.1038/sj.ejhg.5200868
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发表时间：
2002-11-01
影响因子：
5.2
通讯作者：
Stuhrmann, M
中科院分区：
文献类型：
--
作者：
Schürmann, M;Albrecht, M;Stuhrmann, M
结节病是一种多器官肉芽肿性炎症的复杂疾病。遗传易感性参与该疾病的发病机制。来自意大利的两项连续研究表明，结节病患者的囊性纤维化跨膜电导调节因子（CFTR）基因突变频率较高。我们对 63 个有两个或更多受影响兄弟姐妹的家庭进行了 CFTR 基因突变 R75Q 的基因分型，在意大利研究的 26 个病例中发现了 3 个存在这种突变。尽管 R75Q 存在于 7 个家族中，但它既与德国人群中的结节病表型无关 (P = 0.5)，也与结节病无关 (P = 0.54)。此外，还对来自 25 个家庭的 54 名患者进行了 34 种功能性 CFTR 突变筛查。已知这些患者的 CFTR 基因至少有一个亲本拷贝是一致的。除了主要的 CF 突变 DeltaF508（该突变存在于 3 名患者中，而在两个家庭的 1 名患者中不存在）之外，我们在这 54 名患者中没有发现任何其他 CF 突变。我们的结果不支持 CFTR 突变对结节病发病机制有重大影响的假设。
Sarcoidosis is a complex disease of multiorgan granulomatous inflammation. Genetic susceptibility is involved in the pathogenesis of the disorder. Two successive studies from Italy have shown a high frequency of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suffering from sarcoidosis. We have genotyped a panel of 63 families with two or more affected siblings for the CFTR gene mutation R75Q, which was found to be present in three of 26 cases of the Italian study. Although R75Q was present in seven families, it was neither associated with the sarcoidosis phenotype in the German population (P = 0.5), nor was it linked to sarcoidosis (P = 0.54). In addition, a screening for 34 functional CFTR mutations was performed in a subset of 54 patients from 25 families. These patients were known to be concordant for at least one parental copy of the CFTR gene. With the exception of the mayor CF mutation DeltaF508, which was present in three patients and absent in one patient from two families, we did not find any other CF mutation in these 54 patients. Our results do not support the hypothesis that CFTR mutations have a major influence on the pathogenesis of sarcoidosis.