Characteristics of the ICGN and COPDGene subjects in the replication analysis are reported in Table 1. The two SNPs in Table 2 were analyzed in previous reports [12], [36] and were not retested. Of the remaining 74 SNPs, 69 were successfully genotyped in ICGN and COPDGene. Screening in the larger ICGN study found 8 SNPs with p<0.1 (Table 3). Of these, only one had p<0.1 in COPDGene. SNP rs1265098 was significantly associated with COPD in ICGN and had a trend for significance in COPDGene. The effect direction for rs1265098 was consistent in ICGN, COPDGene, and the combined GWAS; the minor allele was associated with increased COPD risk in all three studies. SNP rs1265098 maps to the gene PSORS1C1 (psoriasis susceptibility 1 candidate 1 [MIM 613525]) on chromosome 6, yet is associated with transcript levels of the neighboring gene PSORS1C3 (p = 8.2e-05, FDR-adjusted p = 0.016) (Figure 2).
