EGLN2 and RNF150 genetic variants are associated with chronic obstructive pulmonary disease risk in the Chinese population.
EGLN2 and RNF150 genetic variants are associated with chronic obstructive pulmonary disease risk in the Chinese population.
复制标题
EGLN2 和 RNF150 基因变异与中国人群慢性阻塞性肺疾病风险相关。
DOI：
10.2147/copd.s73031
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发表时间：
2015
影响因子：
2.8
通讯作者：
Jin T
中科院分区：
文献类型：
--
作者：
Ding Y;Niu H;Yang H;Sun P;Chen Y;Duan M;Xu D;Xu J;Jin T
慢性阻塞性肺疾病（COPD）是一种主要的并且在世界范围内日益普遍的健康问题。据报道，遗传变异可能在COPD的发展和严重程度中发挥作用。本研究的目的是探讨多种遗传变异中的单核苷酸多态性是否与海南省中国人群的COPD相关。在本病例对照研究中，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了基因分型，并使用χ2检验和遗传模型分析评估了它们与COPD的关联。RNF 150基因rs 10007052多态性与COPD风险显著相关，相关性为5%（比值比=1.43，95%可信区间，1.06-1.95，P=0.020）。在对数加性模型中，RNF 150基因中rs 10007052的次要等位基因（C）（P=0.026）和EGLN 2基因中rs3733829的次要等位基因（C）（P=0.037）在校正年龄、性别和吸烟状态后与COPD风险相关。进一步的单倍型分析显示，由EGLN 2基因中rs7937的突变等位基因（C）rs3733829组成的“CT”单倍型与COPD风险增加相关（比值比=1.55; 95%置信区间，1.05-2.31; P=0.029）。研究结果表明RNF 150基因rs 10007052和EGLN 2基因rs3733829与海南省人群COPD的发病风险显著相关。这些数据可能为COPD的发病机制提供新的见解，但需要在全球范围内进行更多参与者的进一步研究来验证我们的结论。
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 χ2 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.