Department of Critical Care Medicine, The Third Affiliated Hospital of Guangzhou Medical University , Guangzhou, China.
Department of Respiration, Guangzhou Chest Hospital , Guangzhou, China.
Cell Cycle. 2020 Nov;19(22):3066-3073. doi: 10.1080/15384101.2020.1831246. Epub 2020 Oct 25.
COPD is a common chronic disease with genetic predisposition. TRPV1 is mainly expressed in peripheral neuron which widely exists in entire respiratory tract. In present study, we aimed to study the relationship between single nucleotide polymorphisms (SNPs) of transient receptor potential vanilloid-1 (TRPV1) and the risk of chronic obstructive pulmonary disease (COPD) or COPD combined with pulmonary hypertension (PH) in Chinese Han population. A total of 1019 individuals, including 506 healthy volunteers and 513 COPD patients (150 patients combined with PH among them) were recruited in this study. Genomic DNA were extracted and sequenced. Genotype and allele frequencies of the TRPV1 SNPs among COPD, COPD combined with PH and control groups were compared. Then, the association of TRPV1 SNPs and smoking status were analyzed. Genotype frequencies of SNP rs3744683 had a significant difference in COPD patients with PH patients compared with control ( = 0.006) or COPD patients without PH patients ( = 0.016). Likewise, SNP rs3744683 was remarkedly associated with the risk of COPD ( = 0.004) in current-smoker groups which phenomenon was not observed in nonsmoker or former-smoker groups. Compared with the control group, there was a significant difference for the distribution of SNP rs4790521 alleles in the COPD group ( = 0.041). For further, logical regression analysis showed that SNP rs3744683 genotype of "TC" was a protective factor for PH in COPD patients compared with the genotype of "TT" (OR = 0.364, 95%CI = 0.159-0.829, = 0.016). Our findings firstly revealed the relevance between TRPV1 SNPs and the risk for COPD/COPD combined with PH.
慢性阻塞性肺疾病（COPD）是一种具有遗传易感性的常见慢性疾病。瞬时受体电位香草酸 1 型（TRPV1）主要表达于外周神经元，广泛存在于整个呼吸道。在本研究中，我们旨在研究瞬时受体电位香草酸 1 型（TRPV1）单核苷酸多态性（SNPs）与中国汉族人群 COPD 或 COPD 合并肺动脉高压（PH）风险的关系。共纳入 1019 名个体，包括 506 名健康志愿者和 513 名 COPD 患者（其中 150 名患者合并 PH）。提取并测序基因组 DNA。比较 TRPV1 SNPs 在 COPD、COPD 合并 PH 和对照组中的基因型和等位基因频率。然后，分析 TRPV1 SNPs 与吸烟状态的关系。在合并 PH 的 COPD 患者与对照组（ = 0.006）或无 PH 的 COPD 患者（ = 0.016）相比，SNP rs3744683 的基因型频率有显著差异。同样，SNP rs3744683 在当前吸烟者中与 COPD 的发病风险显著相关（ = 0.004），而在非吸烟者或曾经吸烟者中则没有观察到这种现象。与对照组相比，COPD 组 SNP rs4790521 等位基因的分布有显著差异（ = 0.041）。进一步的逻辑回归分析显示，与基因型“TT”相比，COPD 患者中 SNP rs3744683 的“TC”基因型是 PH 的保护因素（OR = 0.364，95%CI = 0.159-0.829， = 0.016）。我们的研究结果首次揭示了 TRPV1 SNPs 与 COPD/COPD 合并 PH 的发病风险之间的相关性。
