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Surfactant Protein B Intron 4 Variation in German Patients with COPD and Acute Respiratory Failure

机译:慢性阻塞性肺病和急性呼吸衰竭德国患者中的表面活性蛋白B内含子4变异

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摘要

Chronic obstructive pulmonary disease (COPD) is a major health problem. Genetic factors that contribute to the disease have been postulated. The pulmonary surfactant protein B (SP-B), which is essential for normal lung function, is considered as a candidate gene for COPD in this case-control study. We studied the SP-B intron 4 size variants in 346 individuals. This group consisted of 118 patients with chronic bronchitis or COPD, including 24 patients with acute respiratory failure (ARF) in COPD, 118 matched controls without pulmonary disease and 110 healthy individuals (population control). The frequency of intron 4 variants was similar in either control group (10.9%, 14.4% respectively), with a small increase in the COPD group (18.6%). This increase was due to a high increase of intron 4 variants in the ARF subgroup (37.5%, p = 0.003, OR 4.9, 95% CI: 1.76–13.6). The data indicate that SP-B intron 4 variants may associate with increased risk of ARF in COPD and may be used as a marker of susceptibility in this disease subgroup.
机译:慢性阻塞性肺疾病(COPD)是主要的健康问题。已经推测了导致该疾病的遗传因素。肺表面活性蛋白B(SP-B)对正常的肺功能至关重要,在该病例对照研究中被认为是COPD的候选基因。我们研究了346个个体中SP-B内含子4大小的变异。该组由118例慢性支气管炎或COPD患者组成,包括24例COPD急性呼吸衰竭(ARF)患者,118例无肺部疾病的配对对照和110例健康个体(人群对照)。任一对照组的内含子4变体的发生频率相似(分别为10.9%,14.4%),而COPD组则有少量增加(18.6%)。这种增加是由于ARF亚组中内含子4变体的大量增加(37.5%,p = 0.003,或4.9,95%CI:1.76–13.6)。数据表明,SP-B内含子4变异可能与COPD中ARF的风险增加有关,并且可以用作该疾病亚组中易感性的标志物。

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