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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 FEV 1 /FVC were also assessed in a linear regression model in COPD.Results   The mean FEV 1 /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 FEV 1 /FVC% ( P  max  = 4.1 × 10 −4 ) in COPD adjusting for gender, age, and smoking pack-years. Moreover, statistical significance between risk alleles and the FEV 1 /FVC% ( P  = 2.3 × 10 −4 ), risk genotypes, and the FEV 1 /FVC% ( P  = 3.5 × 10 −4 ) was also observed in COPD.Conclusions   Genetic variants in  HHIP  were related with FEV 1 /FVC in COPD. Significant relationships between risk alleles and risk genotypes and FEV 1 /FVC in COPD were also identified.

biomed research international

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