Bergougnoux Anne, Viart Victoria, Miro Julie, Bommart Sébastien, Molinari Nicolas, des Georges Marie, Claustres Mireille, Chiron Raphaël, Taulan-Cadars Magali
Laboratoire de Génétique Moléculaire, CHRU Montpellier, Montpellier F-34093, France; INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France.
INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France; Université Montpellier I, UFR de Médecine, Montpellier F-34000, France.
J Cyst Fibros. 2015 Sep;14(5):646-53. doi: 10.1016/j.jcf.2015.02.012. Epub 2015 Mar 18.
Although several comprehensive studies have evaluated the role of the CFTR gene in idiopathic diffuse bronchiectasis (DB), it remains controversial.
We analyzed the whole coding region of the CFTR gene, its flanking regions and the promoter in 47 DB patients and 47 controls. Available information about demographic, spirometric, radiological and microbiological data for the DB patients was collected. Unclassified CFTR variants were in vitro functionally assessed.
CFTR variants were identified in 24 DB patients and in 27 controls. DB variants were reclassified based on the results of in silico predictive analyses, in vitro functional assays and data from epidemiological and literature databases. Except for the sweat test value, no clear genotype-phenotype correlation was observed.
DB should not be considered a classical autosomal recessive CFTR-RD. Moreover, although further investigations are necessary, we proposed a new class of "Non-Neutral Variants" whose impact on lung disease requires more studies.
尽管有几项综合性研究评估了囊性纤维化跨膜传导调节因子（CFTR）基因在特发性弥漫性支气管扩张（DB）中的作用，但仍存在争议。
我们分析了47例DB患者和47例对照者的CFTR基因全编码区、侧翼区域及启动子。收集了DB患者的人口统计学、肺功能、放射学和微生物学数据等可用信息。对未分类的CFTR变异体进行体外功能评估。
在24例DB患者和27例对照者中鉴定出CFTR变异体。根据计算机预测分析、体外功能试验结果以及流行病学和文献数据库的数据，对DB变异体进行了重新分类。除汗液试验值外，未观察到明确的基因型-表型相关性。
DB不应被视为典型的常染色体隐性CFTR相关性疾病（CFTR-RD）。此外，尽管有必要进行进一步研究，但我们提出了一类新的“非中性变异体”，其对肺部疾病的影响需要更多研究。
