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

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.

Journal

Journal ID (nlm-ta): Int J Chron Obstruct Pulmon Dis

Journal ID (iso-abbrev): Int J Chron Obstruct Pulmon Dis

Journal ID (publisher-id): International Journal of COPD

Title: International Journal of Chronic Obstructive Pulmonary Disease

Publisher: Dove Medical Press

ISSN (Print): 1176-9106

ISSN (Electronic): 1178-2005

Publication date Collection: 2015

Publication date (Electronic): 17 December 2014

Volume: 10

Pages: 7-13

Affiliations

[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 [phone], Email dyipeng1@ 123456163.com

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 [phone], Email jintianbo@ 123456gmail.com

*The authors are joint first authors

Article

Publisher ID: copd-10-007

DOI: 10.2147/COPD.S73042

PMC ID: 4279605

Copyright statement: © 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

License:

The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

Categories

Subject: Original Research