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 Χ ² 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