早发性 COPD 的全基因组关联研究：一个主要易感性基因座的鉴定。
A Genome-Wide Association Study in Early COPD: Identification of One Major Susceptibility Loci.
机构信息
Division of Pulmonary, Allergy and Critical Care Medicine, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital, Seoul, Korea.
Department of Internal Medicine, Healthcare Research Institute, Healthcare System Gangnam Center, Seoul National University Hospital, Seoul 135-984 Korea.
出版信息
Int J Chron Obstruct Pulmon Dis. 2020 Nov 17;15:2967-2975. doi: 10.2147/COPD.S269263. eCollection 2020.
BACKGROUND
Identifying the genetic basis of airflow limitation is one of the most interesting issues for understanding chronic obstructive pulmonary disease (COPD) pathophysiology. Several studies have shown that some genetic variants associated with COPD have been identified in genome-wide association study (GWAS), especially in patients with moderate to severe COPD; genetic susceptibility for airflow limitation in the early COPD phase has not been widely studied.
OBJECTIVE
We investigated the genetic variants in early COPD.
METHODS
The present study analyzed Gene-environment interaction and phenotype (GENIE) cohort that included participants who received health screening examination. The association between single nucleotide polymorphism (SNP) and susceptibility to early COPD (FEV1 predicted ≥50% and FEV1/FVC <0.7) was tested.
RESULTS
A total of 130 patients with early COPD and 3478 controls (1700 ever smokers and 1778 never smokers) were recruited. When compared with the total controls, certain SNPs (rs2818103, rs875033, rs9354627, rs34552148) on chromosome 6 were included at the top of our list (p= 5.6 × 10-7 ~9.6 × 10-6) although they did not reach genome-wide significance. When compared with the never smoker controls, two SNPs (rs2857210, rs2621419) of the gene class were persistently associated with susceptibility to early COPD.
CONCLUSION
Certain SNPs located on chromosome 6 or the gene were the top-scoring SNPs for the association with susceptibility to early COPD in the Korean GENIE cohort.
背景
确定气流受限的遗传基础是理解慢性阻塞性肺疾病（COPD）病理生理学最有趣的问题之一。几项研究表明，一些与 COPD 相关的遗传变异已在全基因组关联研究（GWAS）中被发现，尤其是在中重度 COPD 患者中；早期 COPD 阶段气流受限的遗传易感性尚未得到广泛研究。
目的
我们研究了早期 COPD 的遗传变异。
方法
本研究分析了基因-环境相互作用和表型（GENIE）队列，该队列包括接受健康筛查检查的参与者。检测单核苷酸多态性（SNP）与早期 COPD（FEV1 预计≥50%和 FEV1/FVC<0.7）易感性之间的关联。
结果
共纳入 130 例早期 COPD 患者和 3478 例对照者（1700 例曾吸烟者和 1778 例从不吸烟者）。与总对照组相比，某些位于 6 号染色体上的 SNP（rs2818103、rs875033、rs9354627、rs34552148）位居前列（p=5.6×10-7~9.6×10-6），尽管它们未达到全基因组显著性。与从不吸烟者对照组相比，两个基因座的两个 SNP（rs2857210、rs2621419）与早期 COPD 的易感性持续相关。
结论
位于 6 号染色体或基因座上的某些 SNP 是韩国 GENIE 队列中与早期 COPD 易感性相关的得分最高的 SNP。
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