We attempted replication studies of the findings for the R336C variant, focusing on LC (1710 cases and 7670 controls) and COPD (1495 cases and 2180 controls), using a single SNP assay for genotyping (Table 3). Combining both phenotypes, the OR was 2.3 (P=0.25). The low allele frequencies in these populations mean that we lack power to obtain meaningful results with the sample sizes studied, with only 10 carriers observed in 13 055 samples (average allele frequency of 0.038%).
