Association of EGLN1 and EGLN3 single-nucleotide polymorphisms with chronic obstructive pulmonary disease risk in a Chinese population

作者：Fang, Si; Qiu, Jinfan; Yu, Huapeng^*; Fan, Huizhen; Wu, Xiping; Fang, Zekui; Shen, Qixiao; Chen, Shuyu

来源：International Journal of Clinical and Experimental Medicine, 2017, 10(7): 10866-10873.

• EGLN1
• EGLN3
• single-nucleotide polymorphisms
• COPD
• case-control study

Hypoxia is implicated in the process of chronic inflammation, which is the characteristic pathogenesis of COPD (chronic obstructive pulmonary disease). EGLNs (EglN prolyl hydroxylase) that connect oxygen sensing to the activation of HIF-1 (hypoxia inducible factor-1) have been proven to play a role in the development of COPD. The objective of this study was to explore the role of EGLN1 and EGLN3 SNPs (single-nucleotide polymorphisms) in susceptibility and development of COPD in a Chinese cohort. Seven SNPs were chosen from two genes (EGLN1 and EGLN3) in 217 cases and 447 controls. The relationship between SNPs and COPD risk was analyzed by using genetic model analysis. Among the seven SNPs, rs11156819 in EGLN3 exhibited a significant association with COPD risk with an OR of 1.392 (95% CI=1.085-1.787, P=0.009). In the log-additive model, the minor allele T of rs11156819 in EGLN3 significantly increased the risk of COPD (OR=1.58, 95% CI=1.14-2.19, P=0.006) after adjusting for gender, age and smoking status. Furthermore, the haplotypes TC (rs11156819-rs900358) was associated with increased COPD risk (OR=1.49, 95% CI= 1.10-2.03, P=0.011). This study suggests that rs11156819 in EGLN3 gene has a significant association with COPD susceptibility among the Chinese population.

• 出版日期2017
• 单位南方医科大学