<i>HIF1A</i> gene rs10873142 polymorphism is associated with risk of chronic obstructive pulmonary disease in a Chinese Han population: a case–control study

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 (<i>HIF1A</i>) gene were found to be associated with COPD risk. The present study aimed to identify whether rs10873142 polymorphism (an intronic polymorphism) in <i>HIF1A</i> gene was related to COPD in a Chinese population. We genotyped <i>HIF1A</i> 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; <i>P</i>=0.042) and T allele (T compared with C: OR: 1.29; 95%CI, 1.02-1.60; <i>P</i>=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 <i>HIF1A</i> gene rs10873142 polymorphism with COPD risk. The present study supports that <i>HIF1A</i> 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 <i>HIF1A</i> gene rs10873142 polymorphism increases the risk of COPD in a Chinese Han population.