Association of five genetic variants with chronic obstructive pulmonary disease susceptibility and spirometric phenotypes in a Chinese Han population

Background and objectiveRecent genome-wide association studies have shown associations between variants at five loci (TNS1, GSTCD, HTR4, AGER and THSD4) and chronic obstructive pulmonary disease (COPD) or lung function. However, their association with COPD has not been proven in Chinese Han population, nor have COPD-related phenotypes been studied. The objective of this study was to look for associations between five single nucleotide polymorphisms (SNP) in these novel candidate genes and COPD susceptibility or lung function in a Chinese Han population. MethodsAllele and genotype data on 680 COPD patients and 687 healthy controls for sentinel SNP in these five loci were investigated. Allele frequencies and genotype distributions were compared between cases and controls, and odds ratios were calculated. Potential relationships between these SNP and COPD-related lung function were assessed. ResultsNo significant associations were found between any of the SNP and COPD in cases and controls. The SNP (rs3995090) in HTR4 was associated with COPD (adjusted P=0.022) in never-smokers, and the SNP (rs2070600) in AGER was associated with forced expiratory volume in 1s (FEV1%) predicted (=-0.066, adjusted P=0.016) and FEV1/forced vital capacity (=-0.071, adjusted P=0.009) in all subjects. ConclusionsThe variant at HTR4 was associated with COPD in never-smokers, and the SNP in AGER was associated with pulmonary function in a Chinese Han population. We demonstrate that variants in HTR4 are associated with COPD in never-smokers, and SNP in AGER are associated with lung function in a Chinese Han population.