Department of Respiratory and Critical Care Medicine, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, 570311, People's Republic of China.
Int J Chron Obstruct Pulmon Dis. 2022 Jul 27;17:1671-1683. doi: 10.2147/COPD.S366844. eCollection 2022.
Chronic obstructive pulmonary disease (COPD) is the most common chronic inflammatory airway disease. Il-12r beta 2 () is important for the production of pathogenic Th1 cells. We aimed to explore the association between genetic variants and COPD risk among southern Chinese Han population.
We recruited 996 participants to perform an association analysis through SNPStats online software. We used false-positive report probability analysis to detect whether the positive findings were noteworthy. Haploview 4.2 software and SNPStats were used to conduct the haplotype analysis and linkage disequilibrium. Finally, the interaction of SNP-SNP in COPD risk was evaluated by multi-factor dimensionality reduction.
The study found evidence that genetic loci in (rs2201584, rs1874791, rs6679356, and rs3790567) were potentially associated with the COPD susceptibility. In particular, -rs2201584 and -rs1874791 showed close associations with COPD risk in both overall and several stratified analyses. Overall analysis or several stratified analyses indicated that allele A or homozygous genotype AA of -rs2201584 were risk factors for COPD (Allele A: OR (95% CI) = 1.23 (1.02-1.48), = 0.033; genotype AA: OR (95% CI) = 1.76 (1.15-2.69), = 0.009). The allele A or homozygous genotype AA of - rs1874791 were also risk factors for COPD (Allele A: OR (95% CI) = 1.36 (1.10-1.68), = 0.004; genotype AA: OR (95% CI) = 2.17 (1.18-3.99), = 0.013).
Intronic variants in (rs2201584, rs1874791, rs6679356, and rs3790567) were associated with the COPD susceptibility. In particular, there were sufficient evidences that -rs2201584 and -rs1874791 were associated with the increasing risk of COPD.
慢性阻塞性肺疾病（COPD）是最常见的慢性炎症性气道疾病。IL-12Rβ2（）对于致病性 Th1 细胞的产生很重要。我们旨在探讨中国南方汉族人群中基因变异与 COPD 风险的关联。
我们招募了 996 名参与者，通过 SNPStats 在线软件进行关联分析。我们使用假阳性报告概率分析来检测阳性发现是否值得关注。Haploview 4.2 软件和 SNPStats 用于进行单体型分析和连锁不平衡。最后，通过多因素降维法评估 SNP-SNP 在 COPD 风险中的相互作用。
该研究发现，（rs2201584、rs1874791、rs6679356 和 rs3790567）中的遗传位点可能与 COPD 易感性有关。特别是，-rs2201584 和 -rs1874791 在整体和几个分层分析中均与 COPD 风险密切相关。总体分析或几个分层分析表明，-rs2201584 的等位基因 A 或纯合基因型 AA 是 COPD 的危险因素（等位基因 A：OR（95%CI）=1.23（1.02-1.48），=0.033；基因型 AA：OR（95%CI）=1.76（1.15-2.69），=0.009）。-rs1874791 的等位基因 A 或纯合基因型 AA 也是 COPD 的危险因素（等位基因 A：OR（95%CI）=1.36（1.10-1.68），=0.004；基因型 AA：OR（95%CI）=2.17（1.18-3.99），=0.013）。
（rs2201584、rs1874791、rs6679356 和 rs3790567）内含子变异与 COPD 易感性相关。特别是，有充分的证据表明，-rs2201584 和 -rs1874791 与 COPD 风险的增加有关。
