Genetic Variants in the Hedgehog Interacting Protein Gene Are Associated with the FEV1FVC Ratio in Southern Han Chinese Subjects with Chronic Obstructive Pulmonary Disease

Abstract EN

Background.

Convincing evidences have demonstrated the associations between HHIP and FAM13a polymorphisms and COPD in non-Asian populations.

Here genetic variants in HHIP and FAM13a 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 HHIP gene on FEV1/FVC were also assessed in a linear regression model in COPD.

Results.

The mean FEV1/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 HHIP were associated significantly with the FEV1/FVC% (Pmax = 4.1 × 10−4) in COPD adjusting for gender, age, and smoking pack-years.

Moreover, statistical significance between risk alleles and the FEV1/FVC% (P = 2.3 × 10−4), risk genotypes, and the FEV1/FVC% (P = 3.5 × 10−4) was also observed in COPD.

Conclusions.

Genetic variants in HHIP were related with FEV1/FVC in COPD.

Significant relationships between risk alleles and risk genotypes and FEV1/FVC in COPD were also identified.