Meng Xun, Zheng Shao-Qiang, Wang Jin-Hong, Zhang Tao
Department of ENT, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China.
Department of Respiratory Medicine, The Third Affiliated Hospital of Southern Medical University Guangzhou, Guangzhou 510630, China.
J Thorac Dis. 2019 Dec;11(12):5433-5439. doi: 10.21037/jtd.2019.11.37.
To clarify the correlation between the NF-κB1 gene initiation sequence -94ins/delATTG polymorphisms and the acute exacerbation of chronic obstructive pulmonary disease (AECOPD).
Blood samples of 260 AECOPD patients were collected from September 2013 to September 2015 in the department of respiratory medicine, the Third Affiliated Hospital of Southern Medical University. Blood samples of 260 healthy subjects were collected as a control group. DNA was extracted using genomic DNA extraction kits and analyzed on a DNA quantitative analyzer. Data analysis was performed using Rotor-Gene (60001.7) to determine genotypes. SPSS20.0 was used to compare -94ins/delATTG polymorphisms between patients and healthy subjects. The relationship between the promoter sequence -94ins/delATTG of NF-κB1 genotypes and AECOPD were further analyzed.
We detected ins/ins, insertion or deletion (ins/del) and del/del genotypes from both the AECOPD and healthy control groups. The distribution of the three genotypes were consistent with the Hardy-Weinberg equilibrium law. The composition ratios of ins/ins, ins/del, del/del genotype distributions differed between AECOPD and control groups (P<0.05). The differences in ins/ins, ins/del and del/del genotype distributions between the two groups also significantly differed (P<0.05). The distribution of allele frequencies was comparable between the groups (P>0.05). The distribution ratio showed no relevance to the smoking index and clinical phenotypes of AECOPD patients, whether carrying ins/ins + ins/del genotypes or del/del genes (P>0.05). Compared to AECOPD patients with del/del genotypes, AECOPD patients with ins/ins + ins/del genotypes had a lower body mass index (BMI), a higher COPD assessment test (CAT) score, a larger number of acute episodes and longer hospital stays (P<0.05).
The detection of the -94ins/delATTG polymorphism in patients with AECOPD can predict disease prognosis. The BMI of patients with AECOPD was significantly lower in patients carrying the -94insATTG gene. Gene detection is therefore important in patients carrying ins/ins or ins/del genotypes following admission.
阐明核因子κB1（NF-κB1）基因起始序列-94ins/delATTG多态性与慢性阻塞性肺疾病急性加重（AECOPD）之间的相关性。
于2013年9月至2015年9月在南方医科大学第三附属医院呼吸内科收集260例AECOPD患者的血样。收集260例健康受试者的血样作为对照组。使用基因组DNA提取试剂盒提取DNA，并在DNA定量分析仪上进行分析。使用Rotor-Gene（60001.7）进行数据分析以确定基因型。采用SPSS20.0比较患者与健康受试者之间的-94ins/delATTG多态性。进一步分析NF-κB1基因型启动子序列-94ins/delATTG与AECOPD之间的关系。
我们在AECOPD组和健康对照组中均检测到ins/ins、插入或缺失（ins/del）和del/del基因型。三种基因型的分布符合Hardy-Weinberg平衡定律。AECOPD组和对照组之间ins/ins、ins/del、del/del基因型分布的构成比不同（P<0.05）。两组之间ins/ins、ins/del和del/del基因型分布的差异也有统计学意义（P<0.05）。两组之间等位基因频率分布具有可比性（P>0.05）。无论携带ins/ins + ins/del基因型还是del/del基因，分布比例与AECOPD患者的吸烟指数和临床表型均无相关性（P>0.05）。与del/del基因型的AECOPD患者相比，ins/ins + ins/del基因型的AECOPD患者体重指数（BMI）较低、慢性阻塞性肺疾病评估测试（CAT）得分较高、急性发作次数较多且住院时间较长（P<0.05）。
检测AECOPD患者的-94ins/delATTG多态性可预测疾病预后。携带-94insATTG基因的AECOPD患者BMI显著较低。因此，对于入院后携带ins/ins或ins/del基因型的患者，基因检测很重要。
