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

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          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.


          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.


          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.

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          Most cited references 16

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          High-throughput oncogene mutation profiling in human cancer.

          Systematic efforts are underway to decipher the genetic changes associated with tumor initiation and progression. However, widespread clinical application of this information is hampered by an inability to identify critical genetic events across the spectrum of human tumors with adequate sensitivity and scalability. Here, we have adapted high-throughput genotyping to query 238 known oncogene mutations across 1,000 human tumor samples. This approach established robust mutation distributions spanning 17 cancer types. Of 17 oncogenes analyzed, we found 14 to be mutated at least once, and 298 (30%) samples carried at least one mutation. Moreover, we identified previously unrecognized oncogene mutations in several tumor types and observed an unexpectedly high number of co-occurring mutations. These results offer a new dimension in tumor genetics, where mutations involving multiple cancer genes may be interrogated simultaneously and in 'real time' to guide cancer classification and rational therapeutic intervention.
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            Statistics notes. The odds ratio.

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              HIF and the lung: role of hypoxia-inducible factors in pulmonary development and disease.


                Author and article information

                Int J Chron Obstruct Pulmon Dis
                Int J Chron Obstruct Pulmon Dis
                International Journal of COPD
                International Journal of Chronic Obstructive Pulmonary Disease
                Dove Medical Press
                17 December 2014
                : 10
                : 7-13
                [1 ]Department of Emergency, People’s Hospital of Hainan Province, Haikou, Hainan, People’s Republic of China
                [2 ]Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China
                [3 ]School of Life Sciences, Northwest University, Xi’an, People’s Republic of China
                [4 ]Department of Respiration, People’s Hospital of Qionghai, Qionghai, Hainan, People’s Republic of China
                [5 ]National Engineering Research Center for Miniaturized Detection Systems, Xi’an, People’s Republic of China
                Author notes
                Correspondence: Yipeng Ding, Department of Emergency, People’s Hospital of Hainan Province, Haikou, Hainan, 570311, People’s Republic of China, Tel/Fax +86 898 6622 2502, Email dyipeng1@
                Tianbo Jin, Northwest University, National Engineering Research Center for Miniaturized Detection Systems, Mailbox 386, #229 North Taibai Road, Xi’an 710069, Shaanxi, People’s Republic of China, Tel/Fax +86 29 8830 2831, Email jintianbo@

                *The authors are joint first authors

                © 2015 Ding et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License

                The full terms of the License are available at Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

                Original Research

                Respiratory medicine

                single nucleotide polymorphism (snp), ireb2, hif1a


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