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.

• Authors: Yipeng Ding, Danlei Yang, Xiaojie Xun, Zhifeng Wang, Pei Sun, Dongchuan Xu, Ping He, Huan Niu, Tianbo Jin
• Journal: International journal of chronic obstructive pulmonary disease (Int J Chron Obstruct Pulmon Dis) Vol. 10 Pg. 7-13 ( 2015) ISSN: 1178-2005 [Electronic] New Zealand
• PMID: 25565795 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• HIF1A protein, human
• Hypoxia-Inducible Factor 1, alpha Subunit
• Iron Regulatory Protein 2

Topics

• Aged
• Aged, 80 and over
• Asian People (genetics)
• Case-Control Studies
• Chi-Square Distribution
• China (epidemiology)
• Female
• Gene Frequency
• Genetic Association Studies
• Genetic Predisposition to Disease
• Haplotypes
• Humans
• Hypoxia-Inducible Factor 1, alpha Subunit (genetics)
• Iron Regulatory Protein 2 (genetics)
• Logistic Models
• Lung (physiopathology)
• Male
• Middle Aged
• Models, Genetic
• Odds Ratio
• Phenotype
• Polymorphism, Single Nucleotide
• Pulmonary Disease, Chronic Obstructive (diagnosis, ethnology, genetics, physiopathology)
• Risk Factors