EGLN2 and RNF150 genetic variants are associated with chronic obstructive pulmonary disease risk in the Chinese population

Abstract

Yipeng Ding,1,* Huan Niu,1,* Hua Yang,2 Pei Sun,1 Yu Chen,3 Mengling Duan,1 Dongchuan Xu,1 Junxue Xu,3 Tianbo Jin2,4 1Department of Emergency, People’s Hospital of Hainan Province, Haikou, Hainan, People’s Republic of China; 2School of Life Sciences, Northwest University, Xi’an, People’s Republic of China; 3Department of Respiration Emergency, The Third People’s Hospital of Haikou, Haikou, Hainan, People’s Republic of China; 4National Engineering Research Center for Miniaturized Detection Systems, Xi’an, People’s Republic of China *These authors contributed equally to this work Purpose: 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.Methods: 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.Results: 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).Conclusion: 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. Keywords: case-control studies, COPD, tag single-nucleotide polymorphism