中国南方人群中基因多态性对慢性阻塞性肺疾病易感性的作用。
The role of polymorphisms on COPD susceptibility in southern Chinese.
作者信息
Wang Yunchao, Lin Ao, He Ruiqi, Chen Cuiyi, Zeng Xiaobin, Pan Yujie, Mao Chun, Xie Chenli, Huang Dongsheng, Deng Yibin, Zhang Xuhui, Lu Jiachun, Wang Xinhua
机构信息
Institute of Basic Medicine, Institute of Public Health, Gansu University of Chinese Medicine, Lanzhou, Gansu Province, 730030, China.
The State Key Lab of Respiratory Disease, The First Affiliated Hospital, Institute of Public Health, Guangzhou Medical University, Guangzhou, Guangdong Province, 510000, China.
出版信息
Heliyon. 2023 Sep 23;9(10):e20226. doi: 10.1016/j.heliyon.2023.e20226. eCollection 2023 Oct.
OBJECTIVE
COPD is the most common chronic respiratory disease with complex environmental and genetic etiologies. It was reported that might participate in the occurrence and development of respiratory diseases. However, the association between and COPD was unclear.
METHODS
First, a case-control study enrolling 1130 COPD patients and 1115 healthy controls in Guangzhou was conducted to clarify the association between polymorphisms and COPD susceptibility. Secondly, a prevalence study recruited 882 participants in Gansu to verify the effect of positive polymorphisms on lung function. Finally, the 10-year absolute risk considering environmental factors and genetic variations was calculated by the method of Gail and Bruzzi.
RESULTS
rs13419896 AA genotype reduced COPD risk in southern Chinese (AA vs. GG: adjusted OR = 0.689, 95% CI = 0.498-0.955; AA vs. GG/GA: adjusted OR = 0.701, 95% CI = 0.511-0.962). Further, the rs13419896 A allele was significantly associated with higher pre-FEV1/pre-FVC in both the Guangzhou and Gansu populations ( < 0.05). Smoking status, coal as fuels, education level, and rs13419896 G > A were finally retained to develop a relative risk model for males. Smoking status, biomass as fuels, and rs13419896 G > A were retained in the female model. The population-attributable risk of the male or female model was 0.457 (0.283-0.632) and 0.421 (0.227-0.616), respectively.
CONCLUSIONS
This study first revealed that rs13419896 G > A decreased COPD susceptibility and could be a genetic marker to predict the 10-year absolute risk for COPD.
目的
慢性阻塞性肺疾病（COPD）是最常见的慢性呼吸道疾病，其环境和遗传病因复杂。据报道，[此处原文缺失相关内容]可能参与呼吸系统疾病的发生和发展。然而，[此处原文缺失相关内容]与COPD之间的关联尚不清楚。
方法
首先，在广州进行了一项病例对照研究，纳入1130例COPD患者和1115名健康对照，以阐明[此处原文缺失相关内容]基因多态性与COPD易感性之间的关联。其次，在甘肃招募了882名参与者进行患病率研究，以验证阳性基因多态性对肺功能的影响。最后，采用盖尔（Gail）和布鲁齐（Bruzzi）方法计算考虑环境因素和基因变异的10年绝对风险。
结果
rs13419896 AA基因型降低了中国南方人群患COPD的风险（AA与GG：校正OR = 0.689，95% CI = 0.498 - 0.955；AA与GG/GA：校正OR = 0.701，95% CI = 0.511 - 0.962）。此外，rs13419896 A等位基因在广州和甘肃人群中均与较高的FEV1/FVC比值显著相关（P < 0.05）。吸烟状况、以煤为燃料、教育水平和rs13419896 G>A最终被纳入构建男性相对风险模型。吸烟状况、以生物质为燃料和rs13419896 G>A被纳入女性模型。男性或女性模型的人群归因风险分别为0.457（0.283 - 0.632）和0.421（0.227 - 0.616）。
结论
本研究首次揭示rs13419896 G>A降低了COPD易感性，并且可能是预测COPD 10年绝对风险的遗传标志物。
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