HIF1A gene rs10873142 polymorphism is associated with risk of chronic obstructive pulmonary disease in a Chinese Han population: a case-control study.

Licheng Wang,Ye Chen,Yanliang Tang

doi:10.1042/bsr20171309

Abstract

Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long-term poor airflow. Recently, variants in the hypoxia inducible factor 1α (HIF1A) gene were found to be associated with COPD risk. The present study aimed to identify whether rs10873142 polymorphism (an intronic polymorphism) in HIF1A gene was related to COPD in a Chinese population. We genotyped HIF1A gene rs10873142 polymorphism in a case–control study with 235 COPD cases and 548 controls in a Chinese Han population. Odd ratios (ORs) and 95% confidence intervals (CIs) were estimated using the chi-squared (χ2) test, genetic model analysis, and stratification analysis. In the genetic model analysis, we found that the TT genotype (TT compared with CC: OR: 1.63; 95% CI: 1.02–2.60; P=0.042) and T allele (T compared with C: OR: 1.29; 95%CI, 1.02–1.60; P=0.032) showed significant correlation with the risk of COPD. However, in stratification analyses of age, BMI, and forced expiratory volume in 1 s (FEV1)/FEV, we failed to find any association between HIF1A gene rs10873142 polymorphism with COPD risk. The present study supports that HIF1A gene rs10873142 polymorphism may be associated with increased risk of COPD in a Chinese Han population. To the best of our knowledge, this is the first case–control study uncovering that the HIF1A gene rs10873142 polymorphism increases the risk of COPD in a Chinese Han population.

Highlights

Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long-term poor airflow
We found the risk of COPD in individuals with TT genotype was 1.6-times higher than that of individuals with CC genotype (TT compared with CC: odds ratio (OR): 1.63; 95% confidence interval (CI): 1.02–2.60; P=0.042)
The T allele of rs10873142 polymorphism was associated with the increased risk of COPD (T compared with C: OR: 1.29; 95% CI: 1.02–1.60; P=0.032)

Summary

Introduction

Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long-term poor airflow. The individual response to tobacco smoking and other environmental exposures is affected partly by genetic factors, and the development of COPD is the culmination of the environment acting in concert with a complex array of genetic factors [4]. HIF-1 mediates adaptive responses to reduced oxygen availability by regulating gene expression. A critical cell autonomous adaptive response to chronic hypoxia controlled by HIF-1 is reduced mitochondrial mass and/or metabolism. Exposure of HIF-1-deficient fibroblasts to chronic hypoxia results in cell death due to excessive levels of reactive oxygen species [5]. HIF-1 is involved c 2018 The Author(s)

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Conclusion