The only significant associations in the Boston Early-Onset COPD families were with the rs8034191 and rs1051730 SNPs at the CHRNA 3/5 locus (p = 0.03 and 0.03 respectively) and the rs1828591 and rs13118928 SNPs at the HHIP locus (p = 0.0025 and 0.0014 respectively) with post bronchodilator FEV1. None of the SNPs was significantly associated with a diagnosis of COPD. Since the ICGN cohort had recruited subjects with a wide range of lung function, we also analyzed the association of the CHRNA 3/5 markers with post bronchodilator FEV1 after adjusting for age, height, gender, pack years and smoking status. The results show that CHRNA 3/5 SNPs were associated with FEV1 in the ICGN population (p values 1.04×10−4 and 1.75×10−5 for rs8034191 and rs1051730 respectively).
