Genetic Variants in the Hedgehog Interacting Protein Gene Are Associated with the FEV1/FVC Ratio in Southern Han Chinese Subjects with Chronic Obstructive Pulmonary Disease.

Background: Convincing evidences have demonstrated the associations between and polymorphisms and COPD in non-Asian populations. Here genetic variants in and were investigated in Southern Han Chinese COPD.

Methods: A case-control study was conducted, including 989 cases and 999 controls. The associations between SNPs genotypes and COPD were performed by a logistic regression model; for SNPs and COPD-related phenotypes such as lung function, COPD severity, pack-year of smoking, and smoking status, a linear regression model was employed. Effects of risk alleles, genotypes, and haplotypes of the 3 significant SNPs in the gene on FEV/FVC were also assessed in a linear regression model in COPD.

Results: The mean FEV/FVC% value was 46.8 in combined COPD population. None of the 8 selected SNPs apparently related to COPD susceptibility. However, three SNPs (rs12509311, rs13118928, and rs182859) in were associated significantly with the FEV/FVC% ( = 4.1 × 10) in COPD adjusting for gender, age, and smoking pack-years. Moreover, statistical significance between risk alleles and the FEV/FVC% ( = 2.3 × 10), risk genotypes, and the FEV/FVC% ( = 3.5 × 10) was also observed in COPD.

Conclusions: Genetic variants in were related with FEV/FVC in COPD. Significant relationships between risk alleles and risk genotypes and FEV/FVC in COPD were also identified.