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. 2014 Dec 17:10:7-13.
doi: 10.2147/COPD.S73042. eCollection 2015.

Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Hainan population: a case-control study

Yipeng Ding  1 , Danlei Yang  2 , Xiaojie Xun  3 , Zhifeng Wang  4 , Pei Sun  1 , Dongchuan Xu  1 , Ping He  1 , Huan Niu  1 , Tianbo Jin  5
Affiliations

Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Hainan population: a case-control study

Yipeng Ding et al. Int J Chron Obstruct Pulmon Dis. .

Abstract

Purpose: Chronic obstructive pulmonary disease (COPD) is predicted to become the third most common cause of death and the fifth most common cause of disability in the world by 2020. Recently, variants in the hypoxia-inducible factor 1α (HIF1A), cholinergic receptor, neuronal nicotinic, alpha polypeptide-5, and iron-responsive element-binding protein 2 gene (IREB2) genes were found to be associated with COPD. This study aims to identify whether the variations in these genes are related to COPD in the Hainan population of the People's Republic of China.

Patients and methods: We genotyped 12 single nucleotide polymorphisms in a case-control study with 200 COPD cases and 401 controls from Hainan, People's Republic of China. Odds ratios and 95% confidence intervals were estimated using the chi-squared (χ(2)) test, genetic model analysis, haplotype analysis, and stratification analysis.

Results: In the genetic model analysis, we found that the genotype T/T of rs13180 of IREB2 decreased the COPD risk by 0.52-fold (P=0.025). But in the further stratification analysis, we failed to find the association between the selected single nucleotide polymorphisms with COPD risk in Han population. In addition, the haplotype analysis of HIF1A gene also was not found to be the possible haplotype associated with COPD risk.

Conclusion: Our results support that IREB2 rs13180 is associated with COPD in Hainan population. And this is the first time the HIF1A polymorphisms in COPD in a Chinese population has been reported, although we failed to find any significant result.

Keywords: HIF1A; IREB2; single nucleotide polymorphism (SNP).

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Figures

Figure 1
Figure 1
Linkage disequilibrium of polymorphic sites in the HIF1A gene. Notes: A standard color scheme is used to display LD with bright red for very strong LD (LOD =2, D′=1), white for no LD (LOD <2, D′<1), pink red (LOD =2, D′<1), and blue (LOD <2, D′=1) for intermediate LD. Abbreviations: HIF1A, hypoxia-inducible factor 1α; LD, linkage disequilibrium; LOD, likelihood of odds.
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References

    1. Rabe KF, Hurd S, Anzueto A, et al. Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: GOLD executive summary. Am J Respir Crit Care Med. 2007;176(6):532–555. - PubMed
    1. Wan ES, Silverman EK. Genetics of COPD and emphysema. Chest. 2009;136(3):859–866. - PubMed
    1. Silverman EK, Vestbo J, Agusti A, et al. Opportunities and challenges in the genetics of COPD 2010: an International COPD Genetics Conference report. COPD. 2011;8(2):121–135. - PMC - PubMed
    1. Nakamura H. Genetics of COPD. Allergol Int. 2011;60(3):253–258. - PubMed
    1. DeMeo DL, Mariani T, Bhattacharya S, et al. Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene. Am J Hum Genet. 2009;85(4):493–502. - PMC - PubMed

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