Association of surfactant protein B gene with chronic obstructive pulmonary disease susceptibility

SETTING: Genetic predisposition, in addition to smoking, is known to play a key role in susceptibility to chronic obstructive pulmonary disease (COPD). Several candidate genes have been proposed for COPD, including surfactant protein B (SFTPB). However, large studies in populations with different ethnic backgrounds and environments are required to clarify the role of SFTPB in COPD.OBJECTIVE: We investigated the association of SFTPB polymorphisms with COPD susceptibility and lung function in a Chinese Han population.DESIGN: Four single nucleotide polymorphisms (SNPs) in the SFTPB gene were genotyped in 680 COPD patients and 687 controls. Allele frequencies and genotype distributions were compared between cases and controls and the potential relationships between these SNPs and lung function were investigated. Associations between haplotypes and COPD susceptibility were also assessed.RESULTS: The SFTPB exon polymorphism rs1130866 significantly protected subjects from COPD (adjusted P = 0.004) and was associated with an increase in forced expiratory volume in 1 s (FEV1) (adjusted P = 0.014).CONCLUSIONS: SFTPB variants are associated with COPD susceptibility and lung function in the Chinese Han population.