Ding Yipeng, Niu Huan, Yang Hua, Sun Pei, Chen Yu, Duan Mengling, Xu Dongchuan, Xu Junxue, Jin Tianbo
Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
School of Life Sciences, Northwest University, Xi'an, People's Republic of China.
Int J Chron Obstruct Pulmon Dis. 2015 Jan 13;10:145-51. doi: 10.2147/COPD.S73031. eCollection 2015.
Chronic obstructive pulmonary disease (COPD) is a major and an increasingly prevalent health problem worldwide. It has been reported that genetic variation may play a role in the development and severity of COPD. The purpose of this study was to investigate whether single nucleotide polymorphisms in multiple genetic variants were associated with COPD in a Chinese population from Hainan province.
In this case-control study, including 200 COPD patients and 401 controls, we genotyped 14 tag single nucleotide polymorphisms and evaluated their association with COPD using the χ (2) test and genetic model analysis.
The polymorphism, rs10007052, in the RNF150 gene was significantly associated with COPD risk at a 5% level (odds ratio =1.43, 95% confidence interval, 1.06-1.95, P=0.020). In the log-additive model, the minor allele (C) of rs10007052 in the RNF150 gene (P=0.026) and the minor allele (C) of rs3733829 in the EGLN2 gene (P=0.037) were associated with COPD risk after adjustment for age, sex, and smoking status. Further haplotype analysis revealed that the "CT" haplotype composed of the mutant allele (C) of rs7937, rs3733829 in the EGLN2 gene, was associated with increased COPD risk (odds ratio =1.55; 95% confidence interval, 1.05-2.31; P=0.029).
Our findings indicated that rs10007052 in the RNF150 and rs3733829 in the EGLN2 gene were significantly associated with the risk of COPD in Chinese populations of Hainan province. These data may provide novel insights into the pathogenesis of COPD, although further studies with larger numbers of participants worldwide are needed for validation of our conclusions.
慢性阻塞性肺疾病（COPD）是全球范围内一个主要且日益普遍的健康问题。据报道，基因变异可能在COPD的发生发展及严重程度中起作用。本研究的目的是调查多个基因变异中的单核苷酸多态性是否与海南省的中国人群中的COPD相关。
在这项病例对照研究中，包括200例COPD患者和401例对照，我们对14个标签单核苷酸多态性进行基因分型，并使用χ²检验和遗传模型分析评估它们与COPD的关联。
RNF150基因中的多态性rs10007052与COPD风险在5%水平上显著相关（优势比=1.43，95%置信区间，1.06 - 1.95，P = 0.020）。在对数加性模型中，调整年龄、性别和吸烟状态后，RNF150基因中rs10007052的次要等位基因（C）（P = 0.026）和EGLN2基因中rs3733829的次要等位基因（C）（P = 0.037）与COPD风险相关。进一步的单倍型分析显示，由EGLN2基因中rs7937、rs3733829的突变等位基因（C）组成的“CT”单倍型与COPD风险增加相关（优势比 = 1.55；95%置信区间，1.05 - 2.31；P = 0.029）。
我们的研究结果表明，RNF150基因中的rs10007052和EGLN2基因中的rs3733829与海南省中国人群中的COPD风险显著相关。这些数据可能为COPD的发病机制提供新的见解，尽管需要全球更多参与者的进一步研究来验证我们的结论。
