South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
SAHMRI Microbiome Research Laboratory, School of Medicine, Flinders University, Adelaide, South Australia, Australia.
Thorax. 2017 Apr;72(4):304-310. doi: 10.1136/thoraxjnl-2016-208775. Epub 2016 Aug 8.
To assess whether () genotype affects disease severity and airway infection in patients with non-cystic fibrosis bronchiectasis.
Induced sputum samples were obtained from 112 adult patients with high-resolution CT scan-proven bronchiectasis and at least two exacerbations in the previous year, as part of an unrelated randomised control trial.
Presence of null polymorphisms were determined by gene sequencing and verified by endobronchial biopsy histochemical staining. Outcome measures were FEV% predicted, exacerbation frequency, and bacterial, fungal and viral components of the microbiota (measured by culture independent approaches).
Patients were grouped by loss-of-function genotype; categorised as non-secretors (n=27, ), heterozygous secretors (n=54, ) or homozygous secretors (n=31, ). FEV% was significantly lower in patients compared with patients (mean 61.6 (SD 20.0) vs 74.5 (18.0); p=0.023). Exacerbation frequency was significantly higher in (mean count 5.77) compared with (4.07; p=0.004) and (4.63; p=0.026) genotypes. The time until first exacerbation was significantly shorter in compared with (HR=0.571 (95% CI 0.343 to 0.950); p=0.031), with a similar trend for patients (HR=0.577 (0.311 to 1.07); p=0.081). had a significantly reduced frequency of -dominated airway infection (8.7%) compared with (31%; p=0.042) and (36%; p=0.035). In contrast, fungal, viral and non-dominant bacterial components of the microbiome were not significantly different between genotypes.
genotype in patients with non-cystic fibrosis bronchiectasis was significantly associated with disease outcomes, with homozygous secretors exhibiting lower lung function, higher exacerbation number and a higher frequency of -dominated infection.
ACTRN12609000578202 (anzctr.org.au); Pre-results.
评估 （）基因型是否会影响非囊性纤维化支气管扩张症患者的疾病严重程度和气道感染。
112 名成人支气管扩张症患者，通过高分辨率 CT 扫描证实，并在过去一年中有至少两次加重，作为一项无关的随机对照试验的一部分，他们提供了诱导痰样本。
通过基因测序确定缺失 多态性的存在，并通过支气管内活检组织化学染色进行验证。观察指标为 FEV%预测值、加重频率以及微生物群的细菌、真菌和病毒成分（通过非依赖性方法测量）。
根据 失活基因型对患者进行分组；分为非分泌者（n=27，）、杂合分泌者（n=54，）或纯合分泌者（n=31，）。与 患者相比， 患者的 FEV%明显较低（平均 61.6（20.0）比 74.5（18.0）；p=0.023）。 患者的加重频率明显高于 （平均计数 5.77）和 （4.07；p=0.004）和 （4.63；p=0.026）基因型。与 患者相比， 患者首次加重的时间明显缩短（HR=0.571（95%CI 0.343 至 0.950）；p=0.031）， 患者也有类似的趋势（HR=0.577（0.311 至 1.07）；p=0.081）。 患者气道感染以 为主的频率明显低于 （31%；p=0.042）和 （36%；p=0.035）。相比之下， 基因型之间微生物群的真菌、病毒和非优势细菌成分没有明显差异。
非囊性纤维化支气管扩张症患者的 基因型与疾病结局显著相关，纯合子分泌者的肺功能较低，加重次数较多，以 为主的感染频率较高。
ACTRN12609000578202（anzctr.org.au）；预结果。
